Canonical Allele Identifier: CA341156270

Gene: COL11A1

Linked Data

• MyVariant Identifiers: chr1:g.103427453C>G (hg19) ; chr1:g.102961897C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102961897C>G , CM000663.2:g.102961897C>G	GRCh38
NC_000001.10:g.103427453C>G , CM000663.1:g.103427453C>G	GRCh37
NC_000001.9:g.103200041C>G	NCBI36
NG_008033.1:g.151600G>C
NG_008033.2:g.151600G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3137G>C MANE Select	ENSP00000359114.3:p.Gly1046Ala
ENST00000353414.8:c.3020G>C	ENSP00000302551.6:p.Gly1007Ala
ENST00000358392.6:c.3173G>C	ENSP00000351163.2:p.Gly1058Ala
ENST00000370096.7:c.3137G>C	ENSP00000359114.3:p.Gly1046Ala
ENST00000465209.1:n.145G>C
ENST00000512756.5:c.2789G>C	ENSP00000426533.1:p.Gly930Ala
ENST00000635193.1:c.2471G>C
NM_001190709.1:c.3020G>C	NP_001177638.1:p.Gly1007Ala
NM_001854.3:c.3137G>C	NP_001845.3:p.Gly1046Ala
NM_080629.2:c.3173G>C	NP_542196.2:p.Gly1058Ala
NM_080630.3:c.2789G>C	NP_542197.3:p.Gly930Ala
XM_011540719.1:c.3137G>C	XP_011539021.1:p.Gly1046Ala
XM_011540720.1:c.1370G>C	XP_011539022.1:p.Gly457Ala
XM_011540721.1:c.725G>C	XP_011539023.1:p.Gly242Ala
NR_134980.1:n.3471G>C
XM_017000334.1:c.3290G>C	XP_016855823.1:p.Gly1097Ala
XM_017000335.1:c.3284G>C	XP_016855824.1:p.Gly1095Ala
XM_017000336.1:c.3290G>C	XP_016855825.1:p.Gly1097Ala
XM_017000337.1:c.1688G>C	XP_016855826.1:p.Gly563Ala
NM_001854.4:c.3137G>C MANE Select	NP_001845.3:p.Gly1046Ala
NM_080630.4:c.2789G>C	NP_542197.3:p.Gly930Ala
NR_134980.2:n.3497G>C
NM_001190709.2:c.3020G>C	NP_001177638.1:p.Gly1007Ala
NM_080629.3:c.3173G>C	NP_542196.2:p.Gly1058Ala