Canonical Allele Identifier: CA1218087222

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477695C= , CM000663.2:g.197477695C=	GRCh38
NC_000001.10:g.197446825C= , CM000663.1:g.197446825C=	GRCh37
NC_000001.9:g.195713448C=	NCBI36
NG_008483.1:g.214418C=
NG_008483.2:g.281234C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4037C= MANE Select	ENSP00000356370.3:p.Thr1346=
ENST00000367399.6:c.3701C=	ENSP00000356369.2:p.Thr1234=
ENST00000367400.7:c.4037C=	ENSP00000356370.3:p.Thr1346=
ENST00000448952.1:c.271C=	ENSP00000395407.1:n.271C=
ENST00000484075.5:c.*148C=	ENSP00000433932.1:n.*148C=
ENST00000535699.5:c.3965C=	ENSP00000438786.1:p.Thr1322=
ENST00000538660.5:c.2429C=	ENSP00000438091.1:p.Thr810=
NM_001193640.1:c.3701C=	NP_001180569.1:p.Thr1234=
NM_001257965.1:c.3965C=	NP_001244894.1:p.Thr1322=
NM_001257966.1:c.2429C=	NP_001244895.1:p.Thr810=
NM_201253.2:c.4037C=	NP_957705.1:p.Thr1346=
NR_047563.1:n.4038C=
NR_047564.1:n.4488C=
XM_011509366.1:c.*142C=	XP_011507668.1:n.*142C=
XM_011509367.1:c.*16C=	XP_011507669.1:n.*16C=
XM_011509368.1:c.3455C=	XP_011507670.1:p.Thr1152=
XM_011509369.1:c.2480C=	XP_011507671.1:p.Thr827=
XM_011509369.2:c.2480C=	XP_011507671.1:p.Thr827=
XM_017000851.1:c.3194C=	XP_016856340.1:p.Thr1065=
XM_017000852.1:c.4172C=	XP_016856341.1:p.Thr1391=
NM_201253.3:c.4037C= MANE Select	NP_957705.1:p.Thr1346=
NM_001193640.2:c.3701C=	NP_001180569.1:p.Thr1234=
NM_001257965.2:c.3965C=	NP_001244894.1:p.Thr1322=
NR_047563.2:n.3990C=
NR_047564.2:n.4440C=
NM_001257966.2:c.2429C=	NP_001244895.1:p.Thr810=