Canonical Allele Identifier: CA1218087233

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477728T= , CM000663.2:g.197477728T=	GRCh38
NC_000001.10:g.197446858T= , CM000663.1:g.197446858T=	GRCh37
NC_000001.9:g.195713481T=	NCBI36
NG_008483.1:g.214451T=
NG_008483.2:g.281267T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4070T= MANE Select	ENSP00000356370.3:p.Leu1357=
ENST00000367399.6:c.3734T=	ENSP00000356369.2:p.Leu1245=
ENST00000367400.7:c.4070T=	ENSP00000356370.3:p.Leu1357=
ENST00000448952.1:c.304T=	ENSP00000395407.1:n.304T=
ENST00000484075.5:c.*181T=	ENSP00000433932.1:n.*181T=
ENST00000535699.5:c.3998T=	ENSP00000438786.1:p.Leu1333=
ENST00000538660.5:c.2462T=	ENSP00000438091.1:p.Leu821=
NM_001193640.1:c.3734T=	NP_001180569.1:p.Leu1245=
NM_001257965.1:c.3998T=	NP_001244894.1:p.Leu1333=
NM_001257966.1:c.2462T=	NP_001244895.1:p.Leu821=
NM_201253.2:c.4070T=	NP_957705.1:p.Leu1357=
NR_047563.1:n.4071T=
NR_047564.1:n.4521T=
XM_011509366.1:c.*175T=	XP_011507668.1:n.*175T=
XM_011509367.1:c.*49T=	XP_011507669.1:n.*49T=
XM_011509368.1:c.3488T=	XP_011507670.1:p.Leu1163=
XM_011509369.1:c.2513T=	XP_011507671.1:p.Leu838=
XM_011509369.2:c.2513T=	XP_011507671.1:p.Leu838=
XM_017000851.1:c.3227T=	XP_016856340.1:p.Leu1076=
XM_017000852.1:c.4205T=	XP_016856341.1:p.Leu1402=
NM_201253.3:c.4070T= MANE Select	NP_957705.1:p.Leu1357=
NM_001193640.2:c.3734T=	NP_001180569.1:p.Leu1245=
NM_001257965.2:c.3998T=	NP_001244894.1:p.Leu1333=
NR_047563.2:n.4023T=
NR_047564.2:n.4473T=
NM_001257966.2:c.2462T=	NP_001244895.1:p.Leu821=