Canonical Allele Identifier: CA27703281

Gene: COL11A1

Linked Data

• dbSNP Id: rs906141831
• MyVariant Identifiers: chr1:g.103444640G>A (hg19) ; chr1:g.102979084G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102979084G>A , CM000663.2:g.102979084G>A	GRCh38
NC_000001.10:g.103444640G>A , CM000663.1:g.103444640G>A	GRCh37
NC_000001.9:g.103217228G>A	NCBI36
NG_008033.1:g.134413C>T
NG_008033.2:g.134413C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2631C>T MANE Select	ENSP00000359114.3:p.Gly877=
ENST00000353414.8:c.2514C>T	ENSP00000302551.6:p.Gly838=
ENST00000358392.6:c.2667C>T	ENSP00000351163.2:p.Gly889=
ENST00000370096.7:c.2631C>T	ENSP00000359114.3:p.Gly877=
ENST00000512756.5:c.2283C>T	ENSP00000426533.1:p.Gly761=
ENST00000635193.1:c.1965C>T
NM_001190709.1:c.2514C>T	NP_001177638.1:p.Gly838=
NM_001854.3:c.2631C>T	NP_001845.3:p.Gly877=
NM_080629.2:c.2667C>T	NP_542196.2:p.Gly889=
NM_080630.3:c.2283C>T	NP_542197.3:p.Gly761=
XM_011540719.1:c.2631C>T	XP_011539021.1:p.Gly877=
XM_011540720.1:c.864C>T	XP_011539022.1:p.Gly288=
XM_011540721.1:c.219C>T	XP_011539023.1:p.Gly73=
XR_946545.1:n.3045C>T
NR_134980.1:n.2965C>T
XM_017000334.1:c.2784C>T	XP_016855823.1:p.Gly928=
XM_017000335.1:c.2778C>T	XP_016855824.1:p.Gly926=
XM_017000336.1:c.2784C>T	XP_016855825.1:p.Gly928=
XM_017000337.1:c.1182C>T	XP_016855826.1:p.Gly394=
NM_001854.4:c.2631C>T MANE Select	NP_001845.3:p.Gly877=
NM_080630.4:c.2283C>T	NP_542197.3:p.Gly761=
NR_134980.2:n.2991C>T
NM_001190709.2:c.2514C>T	NP_001177638.1:p.Gly838=
NM_080629.3:c.2667C>T	NP_542196.2:p.Gly889=