Canonical Allele Identifier: CA1185292147

Gene: COL11A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.103025482A= , CM000663.2:g.103025482A=	GRCh38
NC_000001.10:g.103491038A= , CM000663.1:g.103491038A=	GRCh37
NC_000001.9:g.103263626A=	NCBI36
NG_008033.1:g.88015T=
NG_008033.2:g.88015T=

Transcript Alleles

HGVS	Amino-acid Change
NM_001854.4:c.990+39T= MANE Select	NP_001845.3:n.990+39T=
ENST00000370096.9:c.990+39T= MANE Select	ENSP00000359114.3:n.990+39T=
NM_001190709.1:c.873+39T=	NP_001177638.1:n.873+39T=
NM_001190709.2:c.873+39T=	NP_001177638.1:n.873+39T=
NM_001854.3:c.990+39T=	NP_001845.3:n.990+39T=
NM_080629.2:c.1026+39T=	NP_542196.2:n.1026+39T=
NM_080629.3:c.1026+39T=	NP_542196.2:n.1026+39T=
NM_080630.3:c.897+734T=	NP_542197.3:n.897+734T=
NM_080630.4:c.897+734T=	NP_542197.3:n.897+734T=
NR_134980.1:n.1308+39T=
NR_134980.2:n.1334+39T=
ENST00000353414.8:c.873+39T=	ENSP00000302551.6:n.873+39T=
ENST00000358392.6:c.1026+39T=	ENSP00000351163.2:n.1026+39T=
ENST00000370096.7:c.990+39T=	ENSP00000359114.3:n.990+39T=
ENST00000427239.5:c.1026+39T=	ENSP00000408640.1:n.1026+39T=
ENST00000461720.6:c.1143+39T=	ENSP00000494909.1:n.1143+39T=
ENST00000512756.5:c.897+734T=	ENSP00000426533.1:n.897+734T=
ENST00000635193.1:c.308+39T=
ENST00000644186.1:c.990+39T=	ENSP00000493821.1:n.990+39T=
ENST00000645458.1:c.990+39T=	ENSP00000494179.1:n.990+39T=
ENST00000647280.1:c.990+39T=	ENSP00000494583.1:n.990+39T=
XM_011540719.1:c.990+39T=	XP_011539021.1:n.990+39T=
XM_011540721.1:c.-1439+39T=	XP_011539023.1:n.-1439+39T=
XM_017000334.1:c.1143+39T=	XP_016855823.1:n.1143+39T=
XM_017000335.1:c.1137+39T=	XP_016855824.1:n.1137+39T=
XM_017000336.1:c.1143+39T=	XP_016855825.1:n.1143+39T=
XR_946545.1:n.1388+39T=