Canonical Allele Identifier: CA973786

Gene: COL11A1

Linked Data

• dbSNP Id: rs774196470
• ExAC: 1:103380303 C / T
• gnomAD v2: 1-103380303-C-T
• gnomAD v4: 1-102914747-C-T
• MyVariant Identifiers: chr1:g.103380303C>T (hg19) ; chr1:g.102914747C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102914747C>T , CM000663.2:g.102914747C>T	GRCh38
NC_000001.10:g.103380303C>T , CM000663.1:g.103380303C>T	GRCh37
NC_000001.9:g.103152891C>T	NCBI36
NG_008033.1:g.198750G>A
NG_008033.2:g.198750G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000370096.9:c.3881G>A MANE Select	ENSP00000359114.3:p.Gly1294Asp
ENST00000353414.8:c.3764G>A	ENSP00000302551.6:p.Gly1255Asp
ENST00000358392.6:c.3917G>A	ENSP00000351163.2:p.Gly1306Asp
ENST00000370096.7:c.3881G>A	ENSP00000359114.3:p.Gly1294Asp
ENST00000512756.5:c.3533G>A	ENSP00000426533.1:p.Gly1178Asp
ENST00000635193.1:c.3215G>A
NM_001190709.1:c.3764G>A	NP_001177638.1:p.Gly1255Asp
NM_001854.3:c.3881G>A	NP_001845.3:p.Gly1294Asp
NM_080629.2:c.3917G>A	NP_542196.2:p.Gly1306Asp
NM_080630.3:c.3533G>A	NP_542197.3:p.Gly1178Asp
XM_011540719.1:c.3881G>A	XP_011539021.1:p.Gly1294Asp
XM_011540720.1:c.2114G>A	XP_011539022.1:p.Gly705Asp
XM_011540721.1:c.1469G>A	XP_011539023.1:p.Gly490Asp
NR_134980.1:n.4215G>A
XM_017000334.1:c.4034G>A	XP_016855823.1:p.Gly1345Asp
XM_017000335.1:c.4028G>A	XP_016855824.1:p.Gly1343Asp
XM_017000336.1:c.4034G>A	XP_016855825.1:p.Gly1345Asp
XM_017000337.1:c.2432G>A	XP_016855826.1:p.Gly811Asp
NM_001854.4:c.3881G>A MANE Select	NP_001845.3:p.Gly1294Asp
NM_080630.4:c.3533G>A	NP_542197.3:p.Gly1178Asp
NR_134980.2:n.4241G>A
NM_001190709.2:c.3764G>A	NP_001177638.1:p.Gly1255Asp
NM_080629.3:c.3917G>A	NP_542196.2:p.Gly1306Asp