Canonical Allele Identifier: CA341212387

Gene: COL11A1

Linked Data

• ClinVar Variation Id: 498797
• ClinVar RCV Id: RCV000591257 ; RCV000624108 ; RCV001824151 ; RCV001799515
• dbSNP Id: rs1553193910
• MyVariant Identifiers: chr1:g.103354286C>A (hg19) ; chr1:g.102888730C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102888730C>A , CM000663.2:g.102888730C>A	GRCh38
NC_000001.10:g.103354286C>A , CM000663.1:g.103354286C>A	GRCh37
NC_000001.9:g.103126874C>A	NCBI36
NG_008033.1:g.224767G>T
NG_008033.2:g.224767G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.4547G>T MANE Select	ENSP00000359114.3:p.Gly1516Val
ENST00000353414.8:c.4430G>T	ENSP00000302551.6:p.Gly1477Val
ENST00000358392.6:c.4583G>T	ENSP00000351163.2:p.Gly1528Val
ENST00000370096.7:c.4547G>T	ENSP00000359114.3:p.Gly1516Val
ENST00000512756.5:c.4199G>T	ENSP00000426533.1:p.Gly1400Val
ENST00000635193.1:c.3881G>T
NM_001190709.1:c.4430G>T	NP_001177638.1:p.Gly1477Val
NM_001854.3:c.4547G>T	NP_001845.3:p.Gly1516Val
NM_080629.2:c.4583G>T	NP_542196.2:p.Gly1528Val
NM_080630.3:c.4199G>T	NP_542197.3:p.Gly1400Val
XM_011540720.1:c.2780G>T	XP_011539022.1:p.Gly927Val
XM_011540721.1:c.2135G>T	XP_011539023.1:p.Gly712Val
NR_134980.1:n.4881G>T
XM_017000334.1:c.4700G>T	XP_016855823.1:p.Gly1567Val
XM_017000335.1:c.4694G>T	XP_016855824.1:p.Gly1565Val
XM_017000337.1:c.3098G>T	XP_016855826.1:p.Gly1033Val
NM_001854.4:c.4547G>T MANE Select	NP_001845.3:p.Gly1516Val
NM_080630.4:c.4199G>T	NP_542197.3:p.Gly1400Val
NR_134980.2:n.4907G>T
NM_001190709.2:c.4430G>T	NP_001177638.1:p.Gly1477Val
NM_080629.3:c.4583G>T	NP_542196.2:p.Gly1528Val