Canonical Allele Identifier: CA1147818905

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477714T= , CM000663.2:g.197477714T=	GRCh38
NC_000001.10:g.197446844T= , CM000663.1:g.197446844T=	GRCh37
NC_000001.9:g.195713467T=	NCBI36
NG_008483.1:g.214437T=
NG_008483.2:g.281253T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4056T= MANE Select	ENSP00000356370.3:p.Thr1352=
ENST00000367399.6:c.3720T=	ENSP00000356369.2:p.Thr1240=
ENST00000367400.7:c.4056T=	ENSP00000356370.3:p.Thr1352=
ENST00000448952.1:c.290T=	ENSP00000395407.1:n.290T=
ENST00000484075.5:c.*167T=	ENSP00000433932.1:n.*167T=
ENST00000535699.5:c.3984T=	ENSP00000438786.1:p.Thr1328=
ENST00000538660.5:c.2448T=	ENSP00000438091.1:p.Thr816=
NM_001193640.1:c.3720T=	NP_001180569.1:p.Thr1240=
NM_001257965.1:c.3984T=	NP_001244894.1:p.Thr1328=
NM_001257966.1:c.2448T=	NP_001244895.1:p.Thr816=
NM_201253.2:c.4056T=	NP_957705.1:p.Thr1352=
NR_047563.1:n.4057T=
NR_047564.1:n.4507T=
XM_011509366.1:c.*161T=	XP_011507668.1:n.*161T=
XM_011509367.1:c.*35T=	XP_011507669.1:n.*35T=
XM_011509368.1:c.3474T=	XP_011507670.1:p.Thr1158=
XM_011509369.1:c.2499T=	XP_011507671.1:p.Thr833=
XM_011509369.2:c.2499T=	XP_011507671.1:p.Thr833=
XM_017000851.1:c.3213T=	XP_016856340.1:p.Thr1071=
XM_017000852.1:c.4191T=	XP_016856341.1:p.Thr1397=
NM_201253.3:c.4056T= MANE Select	NP_957705.1:p.Thr1352=
NM_001193640.2:c.3720T=	NP_001180569.1:p.Thr1240=
NM_001257965.2:c.3984T=	NP_001244894.1:p.Thr1328=
NR_047563.2:n.4009T=
NR_047564.2:n.4459T=
NM_001257966.2:c.2448T=	NP_001244895.1:p.Thr816=