Canonical Allele Identifier: CA419205493

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103412456C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102946900C>T , CM000663.2:g.102946900C>T	GRCh38
NC_000001.10:g.103412456C>T , CM000663.1:g.103412456C>T	GRCh37
NC_000001.9:g.103185044C>T	NCBI36
NG_008033.1:g.166597G>A
NG_008033.2:g.166597G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3225G>A MANE Select	ENSP00000359114.3:p.Gly1075=
ENST00000353414.8:c.3108G>A	ENSP00000302551.6:p.Gly1036=
ENST00000358392.6:c.3261G>A	ENSP00000351163.2:p.Gly1087=
ENST00000370096.7:c.3225G>A	ENSP00000359114.3:p.Gly1075=
ENST00000512756.5:c.2877G>A	ENSP00000426533.1:p.Gly959=
ENST00000635193.1:c.2559G>A
NM_001190709.1:c.3108G>A	NP_001177638.1:p.Gly1036=
NM_001854.3:c.3225G>A	NP_001845.3:p.Gly1075=
NM_080629.2:c.3261G>A	NP_542196.2:p.Gly1087=
NM_080630.3:c.2877G>A	NP_542197.3:p.Gly959=
XM_011540719.1:c.3225G>A	XP_011539021.1:p.Gly1075=
XM_011540720.1:c.1458G>A	XP_011539022.1:p.Gly486=
XM_011540721.1:c.813G>A	XP_011539023.1:p.Gly271=
NR_134980.1:n.3559G>A
XM_017000334.1:c.3378G>A	XP_016855823.1:p.Gly1126=
XM_017000335.1:c.3372G>A	XP_016855824.1:p.Gly1124=
XM_017000336.1:c.3378G>A	XP_016855825.1:p.Gly1126=
XM_017000337.1:c.1776G>A	XP_016855826.1:p.Gly592=
NM_001854.4:c.3225G>A MANE Select	NP_001845.3:p.Gly1075=
NM_080630.4:c.2877G>A	NP_542197.3:p.Gly959=
NR_134980.2:n.3585G>A
NM_001190709.2:c.3108G>A	NP_001177638.1:p.Gly1036=
NM_080629.3:c.3261G>A	NP_542196.2:p.Gly1087=