Canonical Allele Identifier: CA281061

Gene: COL11A1

Linked Data

• ClinVar Variation Id: 17133
• ClinVar RCV Id: RCV000018671
• dbSNP Id: rs121912944
• MyVariant Identifiers: chr1:g.103428306C>A (hg19) ; chr1:g.102962750C>A (hg38)
• PubMed: PMID:1536174 ; PMID:10486316

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102962750C>A , CM000663.2:g.102962750C>A	GRCh38
NC_000001.10:g.103428306C>A , CM000663.1:g.103428306C>A	GRCh37
NC_000001.9:g.103200894C>A	NCBI36
NG_008033.1:g.150747G>T
NG_008033.2:g.150747G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2927G>T MANE Select	ENSP00000359114.3:p.Gly976Val
ENST00000353414.8:c.2810G>T	ENSP00000302551.6:p.Gly937Val
ENST00000358392.6:c.2963G>T	ENSP00000351163.2:p.Gly988Val
ENST00000370096.7:c.2927G>T	ENSP00000359114.3:p.Gly976Val
ENST00000512756.5:c.2579G>T	ENSP00000426533.1:p.Gly860Val
ENST00000635193.1:c.2261G>T
NM_001190709.1:c.2810G>T	NP_001177638.1:p.Gly937Val
NM_001854.3:c.2927G>T	NP_001845.3:p.Gly976Val
NM_080629.2:c.2963G>T	NP_542196.2:p.Gly988Val
NM_080630.3:c.2579G>T	NP_542197.3:p.Gly860Val
XM_011540719.1:c.2927G>T	XP_011539021.1:p.Gly976Val
XM_011540720.1:c.1160G>T	XP_011539022.1:p.Gly387Val
XM_011540721.1:c.515G>T	XP_011539023.1:p.Gly172Val
XR_946545.1:n.3341G>T
NR_134980.1:n.3261G>T
XM_017000334.1:c.3080G>T	XP_016855823.1:p.Gly1027Val
XM_017000335.1:c.3074G>T	XP_016855824.1:p.Gly1025Val
XM_017000336.1:c.3080G>T	XP_016855825.1:p.Gly1027Val
XM_017000337.1:c.1478G>T	XP_016855826.1:p.Gly493Val
NM_001854.4:c.2927G>T MANE Select	NP_001845.3:p.Gly976Val
NM_080630.4:c.2579G>T	NP_542197.3:p.Gly860Val
NR_134980.2:n.3287G>T
NM_001190709.2:c.2810G>T	NP_001177638.1:p.Gly937Val
NM_080629.3:c.2963G>T	NP_542196.2:p.Gly988Val