Canonical Allele Identifier: CA974087

Gene: COL11A1

Linked Data

• dbSNP Id: rs777043044
• ExAC: 1:103412411 A / T
• gnomAD v2: 1-103412411-A-T
• MyVariant Identifiers: chr1:g.103412411A>T (hg19) ; chr1:g.102946855A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102946855A>T , CM000663.2:g.102946855A>T	GRCh38
NC_000001.10:g.103412411A>T , CM000663.1:g.103412411A>T	GRCh37
NC_000001.9:g.103184999A>T	NCBI36
NG_008033.1:g.166642T>A
NG_008033.2:g.166642T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3270T>A MANE Select	ENSP00000359114.3:p.Gly1090=
ENST00000353414.8:c.3153T>A	ENSP00000302551.6:p.Gly1051=
ENST00000358392.6:c.3306T>A	ENSP00000351163.2:p.Gly1102=
ENST00000370096.7:c.3270T>A	ENSP00000359114.3:p.Gly1090=
ENST00000512756.5:c.2922T>A	ENSP00000426533.1:p.Gly974=
ENST00000635193.1:c.2604T>A
NM_001190709.1:c.3153T>A	NP_001177638.1:p.Gly1051=
NM_001854.3:c.3270T>A	NP_001845.3:p.Gly1090=
NM_080629.2:c.3306T>A	NP_542196.2:p.Gly1102=
NM_080630.3:c.2922T>A	NP_542197.3:p.Gly974=
XM_011540719.1:c.3270T>A	XP_011539021.1:p.Gly1090=
XM_011540720.1:c.1503T>A	XP_011539022.1:p.Gly501=
XM_011540721.1:c.858T>A	XP_011539023.1:p.Gly286=
NR_134980.1:n.3604T>A
XM_017000334.1:c.3423T>A	XP_016855823.1:p.Gly1141=
XM_017000335.1:c.3417T>A	XP_016855824.1:p.Gly1139=
XM_017000336.1:c.3423T>A	XP_016855825.1:p.Gly1141=
XM_017000337.1:c.1821T>A	XP_016855826.1:p.Gly607=
NM_001854.4:c.3270T>A MANE Select	NP_001845.3:p.Gly1090=
NM_080630.4:c.2922T>A	NP_542197.3:p.Gly974=
NR_134980.2:n.3630T>A
NM_001190709.2:c.3153T>A	NP_001177638.1:p.Gly1051=
NM_080629.3:c.3306T>A	NP_542196.2:p.Gly1102=