ClinVar

NM_001903.5(CTNNA1):c.2470A>G (p.Asn824Asp)

Gene:

CTNNA1:catenin alpha 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q31.2

Genomic location:

• Chr5: 138933838 (on Assembly GRCh38)
• Chr5: 138269527 (on Assembly GRCh37)

Preferred name:

NM_001903.5(CTNNA1):c.2470A>G (p.Asn824Asp)

HGVS:

• NC_000005.10:g.138933838A>G
• NG_047029.1:g.185443A>G
• NM_001290307.3:c.*15A>G
• NM_001290309.3:c.2161A>G
• NM_001290310.3:c.2101A>G
• NM_001290312.1:c.1360A>G
• NM_001323982.2:c.2470A>G
• NM_001323983.1:c.2470A>G
• NM_001323984.2:c.2470A>G
• NM_001323985.2:c.2443A>G
• NM_001323986.2:c.2377A>G
• NM_001323987.1:c.1360A>G
• NM_001323988.1:c.1360A>G
• NM_001323989.1:c.1360A>G
• NM_001323990.1:c.1360A>G
• NM_001323991.1:c.1360A>G
• NM_001323992.1:c.1360A>G
• NM_001323993.1:c.1360A>G
• NM_001323994.1:c.1360A>G
• NM_001323995.1:c.1360A>G
• NM_001323996.1:c.1360A>G
• NM_001323997.1:c.1360A>G
• NM_001323998.1:c.1360A>G
• NM_001323999.1:c.1360A>G
• NM_001324000.1:c.1360A>G
• NM_001324001.1:c.1225A>G
• NM_001324002.1:c.*15A>G
• NM_001324003.1:c.*15A>G
• NM_001324004.1:c.*15A>G
• NM_001324005.1:c.*15A>G
• NM_001324006.1:c.1021A>G
• NM_001324007.1:c.1021A>G
• NM_001324008.1:c.1021A>G
• NM_001324009.1:c.1021A>G
• NM_001324010.1:c.1021A>G
• NM_001324011.1:c.1267A>G
• NM_001324012.1:c.1117A>G
• NM_001324013.1:c.1117A>G
• NM_001903.5:c.2470A>GMANE SELECT
• NP_001277238.1:p.Asn721Asp
• NP_001277239.1:p.Asn701Asp
• NP_001277241.1:p.Asn454Asp
• NP_001310911.1:p.Asn824Asp
• NP_001310912.1:p.Asn824Asp
• NP_001310913.1:p.Asn824Asp
• NP_001310914.1:p.Asn815Asp
• NP_001310915.1:p.Asn793Asp
• NP_001310916.1:p.Asn454Asp
• NP_001310917.1:p.Asn454Asp
• NP_001310918.1:p.Asn454Asp
• NP_001310919.1:p.Asn454Asp
• NP_001310920.1:p.Asn454Asp
• NP_001310921.1:p.Asn454Asp
• NP_001310922.1:p.Asn454Asp
• NP_001310923.1:p.Asn454Asp
• NP_001310924.1:p.Asn454Asp
• NP_001310925.1:p.Asn454Asp
• NP_001310926.1:p.Asn454Asp
• NP_001310927.1:p.Asn454Asp
• NP_001310928.1:p.Asn454Asp
• NP_001310929.1:p.Asn454Asp
• NP_001310930.1:p.Asn409Asp
• NP_001310935.1:p.Asn341Asp
• NP_001310936.1:p.Asn341Asp
• NP_001310937.1:p.Asn341Asp
• NP_001310938.1:p.Asn341Asp
• NP_001310939.1:p.Asn341Asp
• NP_001310940.1:p.Asn423Asp
• NP_001310941.1:p.Asn373Asp
• NP_001310942.1:p.Asn373Asp
• NP_001894.2:p.Asn824Asp
• NC_000005.9:g.138269527A>G

This HGVS expression did not pass validation

Protein change:

N341D

Links:

dbSNP: rs2150358511

NCBI 1000 Genomes Browser:

rs2150358511

Molecular consequence:

• NM_001290307.3:c.*15A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001324002.1:c.*15A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001324003.1:c.*15A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001324004.1:c.*15A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001324005.1:c.*15A>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001290309.3:c.2161A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001290310.3:c.2101A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001290312.1:c.1360A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323982.2:c.2470A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323983.1:c.2470A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323984.2:c.2470A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323985.2:c.2443A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323986.2:c.2377A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323987.1:c.1360A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323988.1:c.1360A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323989.1:c.1360A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323990.1:c.1360A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323991.1:c.1360A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323992.1:c.1360A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323993.1:c.1360A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323994.1:c.1360A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323995.1:c.1360A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323996.1:c.1360A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323997.1:c.1360A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323998.1:c.1360A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323999.1:c.1360A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001324000.1:c.1360A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001324001.1:c.1225A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001324006.1:c.1021A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001324007.1:c.1021A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001324008.1:c.1021A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001324009.1:c.1021A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001324010.1:c.1021A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001324011.1:c.1267A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001324012.1:c.1117A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001324013.1:c.1117A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001903.5:c.2470A>G - missense variant - [Sequence Ontology: SO:0001583]