Canonical Allele Identifier: CA1218068685

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434831T= , CM000663.2:g.197434831T=	GRCh38
NC_000001.10:g.197403961T= , CM000663.1:g.197403961T=	GRCh37
NC_000001.9:g.195670584T=	NCBI36
NG_008483.1:g.171554T=
NG_008483.2:g.238370T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2968T= MANE Select	ENSP00000356370.3:p.Leu990=
ENST00000638467.1:c.2968T=	ENSP00000491102.1:p.Leu990=
ENST00000681519.1:c.1849T=	ENSP00000505267.1:p.Leu617=
ENST00000367397.1:c.1111T=	ENSP00000356367.1:p.Leu371=
ENST00000367399.6:c.2632T=	ENSP00000356369.2:p.Leu878=
ENST00000367400.7:c.2968T=	ENSP00000356370.3:p.Leu990=
ENST00000484075.5:c.2968T=	ENSP00000433932.1:p.Leu990=
ENST00000535699.5:c.2896T=	ENSP00000438786.1:p.Leu966=
ENST00000538660.5:c.2129-769T=	ENSP00000438091.1:n.2129-769T=
NM_001193640.1:c.2632T=	NP_001180569.1:p.Leu878=
NM_001257965.1:c.2896T=	NP_001244894.1:p.Leu966=
NM_001257966.1:c.2129-769T=	NP_001244895.1:n.2129-769T=
NM_201253.2:c.2968T=	NP_957705.1:p.Leu990=
NR_047563.1:n.2969T=
NR_047564.1:n.3177T=
XM_011509365.1:c.2968T=	XP_011507667.1:p.Leu990=
XM_011509366.1:c.2968T=	XP_011507668.1:p.Leu990=
XM_011509367.1:c.2968T=	XP_011507669.1:p.Leu990=
XM_011509368.1:c.2386T=	XP_011507670.1:p.Leu796=
XM_011509369.1:c.1411T=	XP_011507671.1:p.Leu471=
XM_011509365.2:c.2968T=	XP_011507667.1:p.Leu990=
XM_011509369.2:c.1411T=	XP_011507671.1:p.Leu471=
XM_017000851.1:c.2125T=	XP_016856340.1:p.Leu709=
XM_017000852.1:c.3103T=	XP_016856341.1:p.Leu1035=
NM_201253.3:c.2968T= MANE Select	NP_957705.1:p.Leu990=
NM_001193640.2:c.2632T=	NP_001180569.1:p.Leu878=
NM_001257965.2:c.2896T=	NP_001244894.1:p.Leu966=
NR_047563.2:n.2921T=
NR_047564.2:n.3129T=
NM_001257966.2:c.2129-769T=	NP_001244895.1:n.2129-769T=