Canonical Allele Identifier: CA419200392

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103444631A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102979075A>G , CM000663.2:g.102979075A>G	GRCh38
NC_000001.10:g.103444631A>G , CM000663.1:g.103444631A>G	GRCh37
NC_000001.9:g.103217219A>G	NCBI36
NG_008033.1:g.134422T>C
NG_008033.2:g.134422T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2640T>C MANE Select	ENSP00000359114.3:p.Gly880=
ENST00000353414.8:c.2523T>C	ENSP00000302551.6:p.Gly841=
ENST00000358392.6:c.2676T>C	ENSP00000351163.2:p.Gly892=
ENST00000370096.7:c.2640T>C	ENSP00000359114.3:p.Gly880=
ENST00000512756.5:c.2292T>C	ENSP00000426533.1:p.Gly764=
ENST00000635193.1:c.1974T>C
NM_001190709.1:c.2523T>C	NP_001177638.1:p.Gly841=
NM_001854.3:c.2640T>C	NP_001845.3:p.Gly880=
NM_080629.2:c.2676T>C	NP_542196.2:p.Gly892=
NM_080630.3:c.2292T>C	NP_542197.3:p.Gly764=
XM_011540719.1:c.2640T>C	XP_011539021.1:p.Gly880=
XM_011540720.1:c.873T>C	XP_011539022.1:p.Gly291=
XM_011540721.1:c.228T>C	XP_011539023.1:p.Gly76=
XR_946545.1:n.3054T>C
NR_134980.1:n.2974T>C
XM_017000334.1:c.2793T>C	XP_016855823.1:p.Gly931=
XM_017000335.1:c.2787T>C	XP_016855824.1:p.Gly929=
XM_017000336.1:c.2793T>C	XP_016855825.1:p.Gly931=
XM_017000337.1:c.1191T>C	XP_016855826.1:p.Gly397=
NM_001854.4:c.2640T>C MANE Select	NP_001845.3:p.Gly880=
NM_080630.4:c.2292T>C	NP_542197.3:p.Gly764=
NR_134980.2:n.3000T>C
NM_001190709.2:c.2523T>C	NP_001177638.1:p.Gly841=
NM_080629.3:c.2676T>C	NP_542196.2:p.Gly892=