Canonical Allele Identifier: CA419200187

Gene: COL11A1

Linked Data

• dbSNP Id: rs1570929094
• MyVariant Identifiers: chr1:g.103444431C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102978875C>T , CM000663.2:g.102978875C>T	GRCh38
NC_000001.10:g.103444431C>T , CM000663.1:g.103444431C>T	GRCh37
NC_000001.9:g.103217019C>T	NCBI36
NG_008033.1:g.134622G>A
NG_008033.2:g.134622G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2694G>A MANE Select	ENSP00000359114.3:p.Gly898=
ENST00000353414.8:c.2577G>A	ENSP00000302551.6:p.Gly859=
ENST00000358392.6:c.2730G>A	ENSP00000351163.2:p.Gly910=
ENST00000370096.7:c.2694G>A	ENSP00000359114.3:p.Gly898=
ENST00000512756.5:c.2346G>A	ENSP00000426533.1:p.Gly782=
ENST00000635193.1:c.2028G>A
NM_001190709.1:c.2577G>A	NP_001177638.1:p.Gly859=
NM_001854.3:c.2694G>A	NP_001845.3:p.Gly898=
NM_080629.2:c.2730G>A	NP_542196.2:p.Gly910=
NM_080630.3:c.2346G>A	NP_542197.3:p.Gly782=
XM_011540719.1:c.2694G>A	XP_011539021.1:p.Gly898=
XM_011540720.1:c.927G>A	XP_011539022.1:p.Gly309=
XM_011540721.1:c.282G>A	XP_011539023.1:p.Gly94=
XR_946545.1:n.3108G>A
NR_134980.1:n.3028G>A
XM_017000334.1:c.2847G>A	XP_016855823.1:p.Gly949=
XM_017000335.1:c.2841G>A	XP_016855824.1:p.Gly947=
XM_017000336.1:c.2847G>A	XP_016855825.1:p.Gly949=
XM_017000337.1:c.1245G>A	XP_016855826.1:p.Gly415=
NM_001854.4:c.2694G>A MANE Select	NP_001845.3:p.Gly898=
NM_080630.4:c.2346G>A	NP_542197.3:p.Gly782=
NR_134980.2:n.3054G>A
NM_001190709.2:c.2577G>A	NP_001177638.1:p.Gly859=
NM_080629.3:c.2730G>A	NP_542196.2:p.Gly910=