Canonical Allele Identifier: CA341163728

Gene: COL11A1

Linked Data

• dbSNP Id: rs1407595240
• gnomAD v2: 1-103444650-C-T
• gnomAD v4: 1-102979094-C-T
• MyVariant Identifiers: chr1:g.103444650C>T (hg19) ; chr1:g.102979094C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102979094C>T , CM000663.2:g.102979094C>T	GRCh38
NC_000001.10:g.103444650C>T , CM000663.1:g.103444650C>T	GRCh37
NC_000001.9:g.103217238C>T	NCBI36
NG_008033.1:g.134403G>A
NG_008033.2:g.134403G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2621G>A MANE Select	ENSP00000359114.3:p.Gly874Asp
ENST00000353414.8:c.2504G>A	ENSP00000302551.6:p.Gly835Asp
ENST00000358392.6:c.2657G>A	ENSP00000351163.2:p.Gly886Asp
ENST00000370096.7:c.2621G>A	ENSP00000359114.3:p.Gly874Asp
ENST00000512756.5:c.2273G>A	ENSP00000426533.1:p.Gly758Asp
ENST00000635193.1:c.1955G>A
NM_001190709.1:c.2504G>A	NP_001177638.1:p.Gly835Asp
NM_001854.3:c.2621G>A	NP_001845.3:p.Gly874Asp
NM_080629.2:c.2657G>A	NP_542196.2:p.Gly886Asp
NM_080630.3:c.2273G>A	NP_542197.3:p.Gly758Asp
XM_011540719.1:c.2621G>A	XP_011539021.1:p.Gly874Asp
XM_011540720.1:c.854G>A	XP_011539022.1:p.Gly285Asp
XM_011540721.1:c.209G>A	XP_011539023.1:p.Gly70Asp
XR_946545.1:n.3035G>A
NR_134980.1:n.2955G>A
XM_017000334.1:c.2774G>A	XP_016855823.1:p.Gly925Asp
XM_017000335.1:c.2768G>A	XP_016855824.1:p.Gly923Asp
XM_017000336.1:c.2774G>A	XP_016855825.1:p.Gly925Asp
XM_017000337.1:c.1172G>A	XP_016855826.1:p.Gly391Asp
NM_001854.4:c.2621G>A MANE Select	NP_001845.3:p.Gly874Asp
NM_080630.4:c.2273G>A	NP_542197.3:p.Gly758Asp
NR_134980.2:n.2981G>A
NM_001190709.2:c.2504G>A	NP_001177638.1:p.Gly835Asp
NM_080629.3:c.2657G>A	NP_542196.2:p.Gly886Asp