Canonical Allele Identifier: CA419200399

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103444636G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102979080G>T , CM000663.2:g.102979080G>T	GRCh38
NC_000001.10:g.103444636G>T , CM000663.1:g.103444636G>T	GRCh37
NC_000001.9:g.103217224G>T	NCBI36
NG_008033.1:g.134417C>A
NG_008033.2:g.134417C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2635C>A MANE Select	ENSP00000359114.3:p.Arg879=
ENST00000353414.8:c.2518C>A	ENSP00000302551.6:p.Arg840=
ENST00000358392.6:c.2671C>A	ENSP00000351163.2:p.Arg891=
ENST00000370096.7:c.2635C>A	ENSP00000359114.3:p.Arg879=
ENST00000512756.5:c.2287C>A	ENSP00000426533.1:p.Arg763=
ENST00000635193.1:c.1969C>A
NM_001190709.1:c.2518C>A	NP_001177638.1:p.Arg840=
NM_001854.3:c.2635C>A	NP_001845.3:p.Arg879=
NM_080629.2:c.2671C>A	NP_542196.2:p.Arg891=
NM_080630.3:c.2287C>A	NP_542197.3:p.Arg763=
XM_011540719.1:c.2635C>A	XP_011539021.1:p.Arg879=
XM_011540720.1:c.868C>A	XP_011539022.1:p.Arg290=
XM_011540721.1:c.223C>A	XP_011539023.1:p.Arg75=
XR_946545.1:n.3049C>A
NR_134980.1:n.2969C>A
XM_017000334.1:c.2788C>A	XP_016855823.1:p.Arg930=
XM_017000335.1:c.2782C>A	XP_016855824.1:p.Arg928=
XM_017000336.1:c.2788C>A	XP_016855825.1:p.Arg930=
XM_017000337.1:c.1186C>A	XP_016855826.1:p.Arg396=
NM_001854.4:c.2635C>A MANE Select	NP_001845.3:p.Arg879=
NM_080630.4:c.2287C>A	NP_542197.3:p.Arg763=
NR_134980.2:n.2995C>A
NM_001190709.2:c.2518C>A	NP_001177638.1:p.Arg840=
NM_080629.3:c.2671C>A	NP_542196.2:p.Arg891=