Canonical Allele Identifier: CA1185292190

Gene: COL11A1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.103025578A= , CM000663.2:g.103025578A=	GRCh38
NC_000001.10:g.103491134A= , CM000663.1:g.103491134A=	GRCh37
NC_000001.9:g.103263722A=	NCBI36
NG_008033.1:g.87919T=
NG_008033.2:g.87919T=

Transcript Alleles

HGVS	Amino-acid Change
NM_001854.4:c.933T= MANE Select	NP_001845.3:p.Tyr311=
ENST00000370096.9:c.933T= MANE Select	ENSP00000359114.3:p.Tyr311=
NM_001190709.1:c.816T=	NP_001177638.1:p.Tyr272=
NM_001190709.2:c.816T=	NP_001177638.1:p.Tyr272=
NM_001854.3:c.933T=	NP_001845.3:p.Tyr311=
NM_080629.2:c.969T=	NP_542196.2:p.Tyr323=
NM_080629.3:c.969T=	NP_542196.2:p.Tyr323=
NM_080630.3:c.897+638T=	NP_542197.3:n.897+638T=
NM_080630.4:c.897+638T=	NP_542197.3:n.897+638T=
NR_134980.1:n.1251T=
NR_134980.2:n.1277T=
ENST00000353414.8:c.816T=	ENSP00000302551.6:p.Tyr272=
ENST00000358392.6:c.969T=	ENSP00000351163.2:p.Tyr323=
ENST00000370096.7:c.933T=	ENSP00000359114.3:p.Tyr311=
ENST00000427239.5:c.969T=	ENSP00000408640.1:p.Tyr323=
ENST00000461720.6:c.1086T=	ENSP00000494909.1:p.Tyr362=
ENST00000512756.5:c.897+638T=	ENSP00000426533.1:n.897+638T=
ENST00000635193.1:c.251T=
ENST00000644186.1:c.933T=	ENSP00000493821.1:p.Tyr311=
ENST00000645458.1:c.933T=	ENSP00000494179.1:p.Tyr311=
ENST00000647280.1:c.933T=	ENSP00000494583.1:p.Tyr311=
XM_011540719.1:c.933T=	XP_011539021.1:p.Tyr311=
XM_011540721.1:c.-1496T=	XP_011539023.1:n.-1496T=
XM_017000334.1:c.1086T=	XP_016855823.1:p.Tyr362=
XM_017000335.1:c.1080T=	XP_016855824.1:p.Tyr360=
XM_017000336.1:c.1086T=	XP_016855825.1:p.Tyr362=
XR_946545.1:n.1331T=