Canonical Allele Identifier: CA341162849

Gene: COL11A1

Linked Data

• ClinVar Variation Id: 1679311
• ClinVar RCV Id: RCV002226908
• dbSNP Id: rs2101678782
• MyVariant Identifiers: chr1:g.103444266T>C (hg19) ; chr1:g.102978710T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102978710T>C , CM000663.2:g.102978710T>C	GRCh38
NC_000001.10:g.103444266T>C , CM000663.1:g.103444266T>C	GRCh37
NC_000001.9:g.103216854T>C	NCBI36
NG_008033.1:g.134787A>G
NG_008033.2:g.134787A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000370096.9:c.2752A>G MANE Select	ENSP00000359114.3:p.Arg918Gly
ENST00000353414.8:c.2635A>G	ENSP00000302551.6:p.Arg879Gly
ENST00000358392.6:c.2788A>G	ENSP00000351163.2:p.Arg930Gly
ENST00000370096.7:c.2752A>G	ENSP00000359114.3:p.Arg918Gly
ENST00000512756.5:c.2404A>G	ENSP00000426533.1:p.Arg802Gly
ENST00000635193.1:c.2086A>G
NM_001190709.1:c.2635A>G	NP_001177638.1:p.Arg879Gly
NM_001854.3:c.2752A>G	NP_001845.3:p.Arg918Gly
NM_080629.2:c.2788A>G	NP_542196.2:p.Arg930Gly
NM_080630.3:c.2404A>G	NP_542197.3:p.Arg802Gly
XM_011540719.1:c.2752A>G	XP_011539021.1:p.Arg918Gly
XM_011540720.1:c.985A>G	XP_011539022.1:p.Arg329Gly
XM_011540721.1:c.340A>G	XP_011539023.1:p.Arg114Gly
XR_946545.1:n.3166A>G
NR_134980.1:n.3086A>G
XM_017000334.1:c.2905A>G	XP_016855823.1:p.Arg969Gly
XM_017000335.1:c.2899A>G	XP_016855824.1:p.Arg967Gly
XM_017000336.1:c.2905A>G	XP_016855825.1:p.Arg969Gly
XM_017000337.1:c.1303A>G	XP_016855826.1:p.Arg435Gly
NM_001854.4:c.2752A>G MANE Select	NP_001845.3:p.Arg918Gly
NM_080630.4:c.2404A>G	NP_542197.3:p.Arg802Gly
NR_134980.2:n.3112A>G
NM_001190709.2:c.2635A>G	NP_001177638.1:p.Arg879Gly
NM_080629.3:c.2788A>G	NP_542196.2:p.Arg930Gly