Canonical Allele Identifier: CA1185280368

Gene: COL11A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.102998319A= , CM000663.2:g.102998319A=	GRCh38
NC_000001.10:g.103463875A= , CM000663.1:g.103463875A=	GRCh37
NC_000001.9:g.103236463A=	NCBI36
NG_008033.1:g.115178T=
NG_008033.2:g.115178T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370096.9:c.2187T= MANE Select	ENSP00000359114.3:p.Asp729=
ENST00000353414.8:c.2070T=	ENSP00000302551.6:p.Asp690=
ENST00000358392.6:c.2223T=	ENSP00000351163.2:p.Asp741=
ENST00000370096.7:c.2187T=	ENSP00000359114.3:p.Asp729=
ENST00000512756.5:c.1839T=	ENSP00000426533.1:p.Asp613=
ENST00000635193.1:c.1505T=
NM_001190709.1:c.2070T=	NP_001177638.1:p.Asp690=
NM_001854.3:c.2187T=	NP_001845.3:p.Asp729=
NM_080629.2:c.2223T=	NP_542196.2:p.Asp741=
NM_080630.3:c.1839T=	NP_542197.3:p.Asp613=
XM_011540719.1:c.2187T=	XP_011539021.1:p.Asp729=
XM_011540720.1:c.420T=	XP_011539022.1:p.Asp140=
XM_011540721.1:c.-242T=	XP_011539023.1:n.-242T=
XR_946545.1:n.2585T=
NR_134980.1:n.2505T=
XM_017000334.1:c.2340T=	XP_016855823.1:p.Asp780=
XM_017000335.1:c.2334T=	XP_016855824.1:p.Asp778=
XM_017000336.1:c.2340T=	XP_016855825.1:p.Asp780=
XM_017000337.1:c.738T=	XP_016855826.1:p.Asp246=
NM_001854.4:c.2187T= MANE Select	NP_001845.3:p.Asp729=
NM_080630.4:c.1839T=	NP_542197.3:p.Asp613=
NR_134980.2:n.2531T=
NM_001190709.2:c.2070T=	NP_001177638.1:p.Asp690=
NM_080629.3:c.2223T=	NP_542196.2:p.Asp741=