Canonical Allele Identifier: CA1185258711

Gene: COL11A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102946908A= , CM000663.2:g.102946908A=	GRCh38
NC_000001.10:g.103412464A= , CM000663.1:g.103412464A=	GRCh37
NC_000001.9:g.103185052A=	NCBI36
NG_008033.1:g.166589T=
NG_008033.2:g.166589T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.3217T= MANE Select	ENSP00000359114.3:p.Leu1073=
ENST00000353414.8:c.3100T=	ENSP00000302551.6:p.Leu1034=
ENST00000358392.6:c.3253T=	ENSP00000351163.2:p.Leu1085=
ENST00000370096.7:c.3217T=	ENSP00000359114.3:p.Leu1073=
ENST00000512756.5:c.2869T=	ENSP00000426533.1:p.Leu957=
ENST00000635193.1:c.2551T=
NM_001190709.1:c.3100T=	NP_001177638.1:p.Leu1034=
NM_001854.3:c.3217T=	NP_001845.3:p.Leu1073=
NM_080629.2:c.3253T=	NP_542196.2:p.Leu1085=
NM_080630.3:c.2869T=	NP_542197.3:p.Leu957=
XM_011540719.1:c.3217T=	XP_011539021.1:p.Leu1073=
XM_011540720.1:c.1450T=	XP_011539022.1:p.Leu484=
XM_011540721.1:c.805T=	XP_011539023.1:p.Leu269=
NR_134980.1:n.3551T=
XM_017000334.1:c.3370T=	XP_016855823.1:p.Leu1124=
XM_017000335.1:c.3364T=	XP_016855824.1:p.Leu1122=
XM_017000336.1:c.3370T=	XP_016855825.1:p.Leu1124=
XM_017000337.1:c.1768T=	XP_016855826.1:p.Leu590=
NM_001854.4:c.3217T= MANE Select	NP_001845.3:p.Leu1073=
NM_080630.4:c.2869T=	NP_542197.3:p.Leu957=
NR_134980.2:n.3577T=
NM_001190709.2:c.3100T=	NP_001177638.1:p.Leu1034=
NM_080629.3:c.3253T=	NP_542196.2:p.Leu1085=