Canonical Allele Identifier: CA974133

Gene: COL11A1

Linked Data

• ClinVar Variation Id: 1050105
• ClinVar RCV Id: RCV001357013 ; RCV004034476
• dbSNP Id: rs760387652
• ExAC: 1:103427454 C / T
• gnomAD v2: 1-103427454-C-T
• gnomAD v3: 1-102961898-C-T
• gnomAD v4: 1-102961898-C-T
• MyVariant Identifiers: chr1:g.103427454C>T (hg19) ; chr1:g.102961898C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102961898C>T , CM000663.2:g.102961898C>T	GRCh38
NC_000001.10:g.103427454C>T , CM000663.1:g.103427454C>T	GRCh37
NC_000001.9:g.103200042C>T	NCBI36
NG_008033.1:g.151599G>A
NG_008033.2:g.151599G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3136G>A MANE Select	ENSP00000359114.3:p.Gly1046Arg
ENST00000353414.8:c.3019G>A	ENSP00000302551.6:p.Gly1007Arg
ENST00000358392.6:c.3172G>A	ENSP00000351163.2:p.Gly1058Arg
ENST00000370096.7:c.3136G>A	ENSP00000359114.3:p.Gly1046Arg
ENST00000465209.1:n.144G>A
ENST00000512756.5:c.2788G>A	ENSP00000426533.1:p.Gly930Arg
ENST00000635193.1:c.2470G>A
NM_001190709.1:c.3019G>A	NP_001177638.1:p.Gly1007Arg
NM_001854.3:c.3136G>A	NP_001845.3:p.Gly1046Arg
NM_080629.2:c.3172G>A	NP_542196.2:p.Gly1058Arg
NM_080630.3:c.2788G>A	NP_542197.3:p.Gly930Arg
XM_011540719.1:c.3136G>A	XP_011539021.1:p.Gly1046Arg
XM_011540720.1:c.1369G>A	XP_011539022.1:p.Gly457Arg
XM_011540721.1:c.724G>A	XP_011539023.1:p.Gly242Arg
NR_134980.1:n.3470G>A
XM_017000334.1:c.3289G>A	XP_016855823.1:p.Gly1097Arg
XM_017000335.1:c.3283G>A	XP_016855824.1:p.Gly1095Arg
XM_017000336.1:c.3289G>A	XP_016855825.1:p.Gly1097Arg
XM_017000337.1:c.1687G>A	XP_016855826.1:p.Gly563Arg
NM_001854.4:c.3136G>A MANE Select	NP_001845.3:p.Gly1046Arg
NM_080630.4:c.2788G>A	NP_542197.3:p.Gly930Arg
NR_134980.2:n.3496G>A
NM_001190709.2:c.3019G>A	NP_001177638.1:p.Gly1007Arg
NM_080629.3:c.3172G>A	NP_542196.2:p.Gly1058Arg