Canonical Allele Identifier: CA973787

Gene: COL11A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102914755T>G , CM000663.2:g.102914755T>G	GRCh38
NC_000001.10:g.103380311T>G , CM000663.1:g.103380311T>G	GRCh37
NC_000001.9:g.103152899T>G	NCBI36
NG_008033.1:g.198742A>C
NG_008033.2:g.198742A>C

Transcript Alleles

HGVS	Amino-acid Change
NM_001854.4:c.3873A>C MANE Select	NP_001845.3:p.Gly1291=
ENST00000370096.9:c.3873A>C MANE Select	ENSP00000359114.3:p.Gly1291=
NM_001190709.1:c.3756A>C	NP_001177638.1:p.Gly1252=
NM_001190709.2:c.3756A>C	NP_001177638.1:p.Gly1252=
NM_001854.3:c.3873A>C	NP_001845.3:p.Gly1291=
NM_080629.2:c.3909A>C	NP_542196.2:p.Gly1303=
NM_080629.3:c.3909A>C	NP_542196.2:p.Gly1303=
NM_080630.3:c.3525A>C	NP_542197.3:p.Gly1175=
NM_080630.4:c.3525A>C	NP_542197.3:p.Gly1175=
NR_134980.1:n.4207A>C
NR_134980.2:n.4233A>C
ENST00000353414.8:c.3756A>C	ENSP00000302551.6:p.Gly1252=
ENST00000358392.6:c.3909A>C	ENSP00000351163.2:p.Gly1303=
ENST00000370096.7:c.3873A>C	ENSP00000359114.3:p.Gly1291=
ENST00000512756.5:c.3525A>C	ENSP00000426533.1:p.Gly1175=
ENST00000635193.1:c.3207A>C
XM_011540719.1:c.3873A>C	XP_011539021.1:p.Gly1291=
XM_011540720.1:c.2106A>C	XP_011539022.1:p.Gly702=
XM_011540721.1:c.1461A>C	XP_011539023.1:p.Gly487=
XM_017000334.1:c.4026A>C	XP_016855823.1:p.Gly1342=
XM_017000335.1:c.4020A>C	XP_016855824.1:p.Gly1340=
XM_017000336.1:c.4026A>C	XP_016855825.1:p.Gly1342=
XM_017000337.1:c.2424A>C	XP_016855826.1:p.Gly808=