Canonical Allele Identifier: CA341156278

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103427454C>G (hg19) ; chr1:g.102961898C>G (hg38)

Genomic Alleles

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

Transcript Alleles

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