Canonical Allele Identifier: CA27703130

Gene: COL11A1

Linked Data

• dbSNP Id: rs898329536
• MyVariant Identifiers: chr1:g.103444273T>C (hg19) ; chr1:g.102978717T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102978717T>C , CM000663.2:g.102978717T>C	GRCh38
NC_000001.10:g.103444273T>C , CM000663.1:g.103444273T>C	GRCh37
NC_000001.9:g.103216861T>C	NCBI36
NG_008033.1:g.134780A>G
NG_008033.2:g.134780A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000370096.9:c.2745A>G MANE Select	ENSP00000359114.3:p.Pro915=
ENST00000353414.8:c.2628A>G	ENSP00000302551.6:p.Pro876=
ENST00000358392.6:c.2781A>G	ENSP00000351163.2:p.Pro927=
ENST00000370096.7:c.2745A>G	ENSP00000359114.3:p.Pro915=
ENST00000512756.5:c.2397A>G	ENSP00000426533.1:p.Pro799=
ENST00000635193.1:c.2079A>G
NM_001190709.1:c.2628A>G	NP_001177638.1:p.Pro876=
NM_001854.3:c.2745A>G	NP_001845.3:p.Pro915=
NM_080629.2:c.2781A>G	NP_542196.2:p.Pro927=
NM_080630.3:c.2397A>G	NP_542197.3:p.Pro799=
XM_011540719.1:c.2745A>G	XP_011539021.1:p.Pro915=
XM_011540720.1:c.978A>G	XP_011539022.1:p.Pro326=
XM_011540721.1:c.333A>G	XP_011539023.1:p.Pro111=
XR_946545.1:n.3159A>G
NR_134980.1:n.3079A>G
XM_017000334.1:c.2898A>G	XP_016855823.1:p.Pro966=
XM_017000335.1:c.2892A>G	XP_016855824.1:p.Pro964=
XM_017000336.1:c.2898A>G	XP_016855825.1:p.Pro966=
XM_017000337.1:c.1296A>G	XP_016855826.1:p.Pro432=
NM_001854.4:c.2745A>G MANE Select	NP_001845.3:p.Pro915=
NM_080630.4:c.2397A>G	NP_542197.3:p.Pro799=
NR_134980.2:n.3105A>G
NM_001190709.2:c.2628A>G	NP_001177638.1:p.Pro876=
NM_080629.3:c.2781A>G	NP_542196.2:p.Pro927=