ClinVar

NM_001854.4(COL11A1):c.2513G>A (p.Gly838Glu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p21.1

Genomic location:

• Chr1: 102984181 (on Assembly GRCh38)
• Chr1: 103449737 (on Assembly GRCh37)

Preferred name:

NM_001854.4(COL11A1):c.2513G>A (p.Gly838Glu)

HGVS:

• NC_000001.11:g.102984181C>T
• NG_008033.2:g.129316G>A
• NM_001190709.2:c.2396G>A
• NM_001854.4:c.2513G>AMANE SELECT
• NM_080629.3:c.2549G>A
• NM_080630.4:c.2165G>A
• NP_001177638.1:p.Gly799Glu
• NP_001845.3:p.Gly838Glu
• NP_542196.2:p.Gly850Glu
• NP_542197.3:p.Gly722Glu
• NC_000001.10:g.103449737C>T
• NM_001854.3:c.2513G>A
• NR_134980.2:n.2857G>A

This HGVS expression did not pass validation

Protein change:

G722E

Links:

dbSNP: rs372419698

Molecular consequence:

• NM_001190709.2:c.2396G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001854.4:c.2513G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_080629.3:c.2549G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_080630.4:c.2165G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_134980.2:n.2857G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]