ClinVar

NM_001854.4(COL11A1):c.2194C>T (p.Pro732Ser)

Gene:

COL11A1:collagen type XI alpha 1 chain [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p21.1

Genomic location:

• Chr1: 102998312 (on Assembly GRCh38)
• Chr1: 103463868 (on Assembly GRCh37)

Preferred name:

NM_001854.4(COL11A1):c.2194C>T (p.Pro732Ser)

Other names:

Chr1:103463868G>A

HGVS:

• NC_000001.11:g.102998312G>A
• NG_008033.2:g.115185C>T
• NM_001190709.2:c.2077C>T
• NM_001854.4:c.2194C>TMANE SELECT
• NM_080629.3:c.2230C>T
• NM_080630.4:c.1846C>T
• NP_001177638.1:p.Pro693Ser
• NP_001845.3:p.Pro732Ser
• NP_542196.2:p.Pro744Ser
• NP_542197.3:p.Pro616Ser
• NC_000001.10:g.103463868G>A
• NG_008033.1:g.115185C>T
• NM_001190709.1:c.2077C>T
• NR_134980.2:n.2538C>T
• p.(Pro693Ser)

This HGVS expression did not pass validation

Protein change:

P616S

Links:

dbSNP: rs375443900

NCBI 1000 Genomes Browser:

rs375443900

Molecular consequence:

• NM_001190709.2:c.2077C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001854.4:c.2194C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_080629.3:c.2230C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_080630.4:c.1846C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_134980.2:n.2538C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1