Canonical Allele Identifier: CA1218068686

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434832T= , CM000663.2:g.197434832T=	GRCh38
NC_000001.10:g.197403962T= , CM000663.1:g.197403962T=	GRCh37
NC_000001.9:g.195670585T=	NCBI36
NG_008483.1:g.171555T=
NG_008483.2:g.238371T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2969T= MANE Select	ENSP00000356370.3:p.Leu990=
ENST00000638467.1:c.2969T=	ENSP00000491102.1:p.Leu990=
ENST00000681519.1:c.1850T=	ENSP00000505267.1:p.Leu617=
ENST00000367397.1:c.1112T=	ENSP00000356367.1:p.Leu371=
ENST00000367399.6:c.2633T=	ENSP00000356369.2:p.Leu878=
ENST00000367400.7:c.2969T=	ENSP00000356370.3:p.Leu990=
ENST00000484075.5:c.2969T=	ENSP00000433932.1:p.Leu990=
ENST00000535699.5:c.2897T=	ENSP00000438786.1:p.Leu966=
ENST00000538660.5:c.2129-768T=	ENSP00000438091.1:n.2129-768T=
NM_001193640.1:c.2633T=	NP_001180569.1:p.Leu878=
NM_001257965.1:c.2897T=	NP_001244894.1:p.Leu966=
NM_001257966.1:c.2129-768T=	NP_001244895.1:n.2129-768T=
NM_201253.2:c.2969T=	NP_957705.1:p.Leu990=
NR_047563.1:n.2970T=
NR_047564.1:n.3178T=
XM_011509365.1:c.2969T=	XP_011507667.1:p.Leu990=
XM_011509366.1:c.2969T=	XP_011507668.1:p.Leu990=
XM_011509367.1:c.2969T=	XP_011507669.1:p.Leu990=
XM_011509368.1:c.2387T=	XP_011507670.1:p.Leu796=
XM_011509369.1:c.1412T=	XP_011507671.1:p.Leu471=
XM_011509365.2:c.2969T=	XP_011507667.1:p.Leu990=
XM_011509369.2:c.1412T=	XP_011507671.1:p.Leu471=
XM_017000851.1:c.2126T=	XP_016856340.1:p.Leu709=
XM_017000852.1:c.3104T=	XP_016856341.1:p.Leu1035=
NM_201253.3:c.2969T= MANE Select	NP_957705.1:p.Leu990=
NM_001193640.2:c.2633T=	NP_001180569.1:p.Leu878=
NM_001257965.2:c.2897T=	NP_001244894.1:p.Leu966=
NR_047563.2:n.2922T=
NR_047564.2:n.3130T=
NM_001257966.2:c.2129-768T=	NP_001244895.1:n.2129-768T=