Canonical Allele Identifier: CA27703271

Gene: COL11A1

Linked Data

• dbSNP Id: rs1011558820
• gnomAD v4: 1-102979076-C-A
• MyVariant Identifiers: chr1:g.103444632C>A (hg19) ; chr1:g.102979076C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102979076C>A , CM000663.2:g.102979076C>A	GRCh38
NC_000001.10:g.103444632C>A , CM000663.1:g.103444632C>A	GRCh37
NC_000001.9:g.103217220C>A	NCBI36
NG_008033.1:g.134421G>T
NG_008033.2:g.134421G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2639G>T MANE Select	ENSP00000359114.3:p.Gly880Val
ENST00000353414.8:c.2522G>T	ENSP00000302551.6:p.Gly841Val
ENST00000358392.6:c.2675G>T	ENSP00000351163.2:p.Gly892Val
ENST00000370096.7:c.2639G>T	ENSP00000359114.3:p.Gly880Val
ENST00000512756.5:c.2291G>T	ENSP00000426533.1:p.Gly764Val
ENST00000635193.1:c.1973G>T
NM_001190709.1:c.2522G>T	NP_001177638.1:p.Gly841Val
NM_001854.3:c.2639G>T	NP_001845.3:p.Gly880Val
NM_080629.2:c.2675G>T	NP_542196.2:p.Gly892Val
NM_080630.3:c.2291G>T	NP_542197.3:p.Gly764Val
XM_011540719.1:c.2639G>T	XP_011539021.1:p.Gly880Val
XM_011540720.1:c.872G>T	XP_011539022.1:p.Gly291Val
XM_011540721.1:c.227G>T	XP_011539023.1:p.Gly76Val
XR_946545.1:n.3053G>T
NR_134980.1:n.2973G>T
XM_017000334.1:c.2792G>T	XP_016855823.1:p.Gly931Val
XM_017000335.1:c.2786G>T	XP_016855824.1:p.Gly929Val
XM_017000336.1:c.2792G>T	XP_016855825.1:p.Gly931Val
XM_017000337.1:c.1190G>T	XP_016855826.1:p.Gly397Val
NM_001854.4:c.2639G>T MANE Select	NP_001845.3:p.Gly880Val
NM_080630.4:c.2291G>T	NP_542197.3:p.Gly764Val
NR_134980.2:n.2999G>T
NM_001190709.2:c.2522G>T	NP_001177638.1:p.Gly841Val
NM_080629.3:c.2675G>T	NP_542196.2:p.Gly892Val