Canonical Allele Identifier: CA1185260637

Gene: COL11A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102961907G= , CM000663.2:g.102961907G=	GRCh38
NC_000001.10:g.103427463G= , CM000663.1:g.103427463G=	GRCh37
NC_000001.9:g.103200051G=	NCBI36
NG_008033.1:g.151590C=
NG_008033.2:g.151590C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3127C= MANE Select	ENSP00000359114.3:p.Leu1043=
ENST00000353414.8:c.3010C=	ENSP00000302551.6:p.Leu1004=
ENST00000358392.6:c.3163C=	ENSP00000351163.2:p.Leu1055=
ENST00000370096.7:c.3127C=	ENSP00000359114.3:p.Leu1043=
ENST00000465209.1:n.135C=
ENST00000512756.5:c.2779C=	ENSP00000426533.1:p.Leu927=
ENST00000635193.1:c.2461C=
NM_001190709.1:c.3010C=	NP_001177638.1:p.Leu1004=
NM_001854.3:c.3127C=	NP_001845.3:p.Leu1043=
NM_080629.2:c.3163C=	NP_542196.2:p.Leu1055=
NM_080630.3:c.2779C=	NP_542197.3:p.Leu927=
XM_011540719.1:c.3127C=	XP_011539021.1:p.Leu1043=
XM_011540720.1:c.1360C=	XP_011539022.1:p.Leu454=
XM_011540721.1:c.715C=	XP_011539023.1:p.Leu239=
NR_134980.1:n.3461C=
XM_017000334.1:c.3280C=	XP_016855823.1:p.Leu1094=
XM_017000335.1:c.3274C=	XP_016855824.1:p.Leu1092=
XM_017000336.1:c.3280C=	XP_016855825.1:p.Leu1094=
XM_017000337.1:c.1678C=	XP_016855826.1:p.Leu560=
NM_001854.4:c.3127C= MANE Select	NP_001845.3:p.Leu1043=
NM_080630.4:c.2779C=	NP_542197.3:p.Leu927=
NR_134980.2:n.3487C=
NM_001190709.2:c.3010C=	NP_001177638.1:p.Leu1004=
NM_080629.3:c.3163C=	NP_542196.2:p.Leu1055=