Canonical Allele Identifier: CA341171374

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103412487G>T (hg19) ; chr1:g.102946931G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102946931G>T , CM000663.2:g.102946931G>T	GRCh38
NC_000001.10:g.103412487G>T , CM000663.1:g.103412487G>T	GRCh37
NC_000001.9:g.103185075G>T	NCBI36
NG_008033.1:g.166566C>A
NG_008033.2:g.166566C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3194C>A MANE Select	ENSP00000359114.3:p.Ala1065Glu
ENST00000353414.8:c.3077C>A	ENSP00000302551.6:p.Ala1026Glu
ENST00000358392.6:c.3230C>A	ENSP00000351163.2:p.Ala1077Glu
ENST00000370096.7:c.3194C>A	ENSP00000359114.3:p.Ala1065Glu
ENST00000512756.5:c.2846C>A	ENSP00000426533.1:p.Ala949Glu
ENST00000635193.1:c.2528C>A
NM_001190709.1:c.3077C>A	NP_001177638.1:p.Ala1026Glu
NM_001854.3:c.3194C>A	NP_001845.3:p.Ala1065Glu
NM_080629.2:c.3230C>A	NP_542196.2:p.Ala1077Glu
NM_080630.3:c.2846C>A	NP_542197.3:p.Ala949Glu
XM_011540719.1:c.3194C>A	XP_011539021.1:p.Ala1065Glu
XM_011540720.1:c.1427C>A	XP_011539022.1:p.Ala476Glu
XM_011540721.1:c.782C>A	XP_011539023.1:p.Ala261Glu
NR_134980.1:n.3528C>A
XM_017000334.1:c.3347C>A	XP_016855823.1:p.Ala1116Glu
XM_017000335.1:c.3341C>A	XP_016855824.1:p.Ala1114Glu
XM_017000336.1:c.3347C>A	XP_016855825.1:p.Ala1116Glu
XM_017000337.1:c.1745C>A	XP_016855826.1:p.Ala582Glu
NM_001854.4:c.3194C>A MANE Select	NP_001845.3:p.Ala1065Glu
NM_080630.4:c.2846C>A	NP_542197.3:p.Ala949Glu
NR_134980.2:n.3554C>A
NM_001190709.2:c.3077C>A	NP_001177638.1:p.Ala1026Glu
NM_080629.3:c.3230C>A	NP_542196.2:p.Ala1077Glu