Canonical Allele Identifier: CA419200347

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103444625A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102979069A>G , CM000663.2:g.102979069A>G	GRCh38
NC_000001.10:g.103444625A>G , CM000663.1:g.103444625A>G	GRCh37
NC_000001.9:g.103217213A>G	NCBI36
NG_008033.1:g.134428T>C
NG_008033.2:g.134428T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2646T>C MANE Select	ENSP00000359114.3:p.Arg882=
ENST00000353414.8:c.2529T>C	ENSP00000302551.6:p.Arg843=
ENST00000358392.6:c.2682T>C	ENSP00000351163.2:p.Arg894=
ENST00000370096.7:c.2646T>C	ENSP00000359114.3:p.Arg882=
ENST00000512756.5:c.2298T>C	ENSP00000426533.1:p.Arg766=
ENST00000635193.1:c.1980T>C
NM_001190709.1:c.2529T>C	NP_001177638.1:p.Arg843=
NM_001854.3:c.2646T>C	NP_001845.3:p.Arg882=
NM_080629.2:c.2682T>C	NP_542196.2:p.Arg894=
NM_080630.3:c.2298T>C	NP_542197.3:p.Arg766=
XM_011540719.1:c.2646T>C	XP_011539021.1:p.Arg882=
XM_011540720.1:c.879T>C	XP_011539022.1:p.Arg293=
XM_011540721.1:c.234T>C	XP_011539023.1:p.Arg78=
XR_946545.1:n.3060T>C
NR_134980.1:n.2980T>C
XM_017000334.1:c.2799T>C	XP_016855823.1:p.Arg933=
XM_017000335.1:c.2793T>C	XP_016855824.1:p.Arg931=
XM_017000336.1:c.2799T>C	XP_016855825.1:p.Arg933=
XM_017000337.1:c.1197T>C	XP_016855826.1:p.Arg399=
NM_001854.4:c.2646T>C MANE Select	NP_001845.3:p.Arg882=
NM_080630.4:c.2298T>C	NP_542197.3:p.Arg766=
NR_134980.2:n.3006T>C
NM_001190709.2:c.2529T>C	NP_001177638.1:p.Arg843=
NM_080629.3:c.2682T>C	NP_542196.2:p.Arg894=