Canonical Allele Identifier: CA1140762955

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434706G= , CM000663.2:g.197434706G=	GRCh38
NC_000001.10:g.197403836G= , CM000663.1:g.197403836G=	GRCh37
NC_000001.9:g.195670459G=	NCBI36
NG_008483.1:g.171429G=
NG_008483.2:g.238245G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2843G= MANE Select	ENSP00000356370.3:p.Cys948=
ENST00000638467.1:c.2843G=	ENSP00000491102.1:p.Cys948=
ENST00000681519.1:c.1724G=	ENSP00000505267.1:p.Cys575=
ENST00000367397.1:c.986G=	ENSP00000356367.1:p.Cys329=
ENST00000367399.6:c.2507G=	ENSP00000356369.2:p.Cys836=
ENST00000367400.7:c.2843G=	ENSP00000356370.3:p.Cys948=
ENST00000484075.5:c.2843G=	ENSP00000433932.1:p.Cys948=
ENST00000535699.5:c.2771G=	ENSP00000438786.1:p.Cys924=
ENST00000538660.5:c.2129-894G=	ENSP00000438091.1:n.2129-894G=
NM_001193640.1:c.2507G=	NP_001180569.1:p.Cys836=
NM_001257965.1:c.2771G=	NP_001244894.1:p.Cys924=
NM_001257966.1:c.2129-894G=	NP_001244895.1:n.2129-894G=
NM_201253.2:c.2843G=	NP_957705.1:p.Cys948=
NR_047563.1:n.2844G=
NR_047564.1:n.3052G=
XM_011509365.1:c.2843G=	XP_011507667.1:p.Cys948=
XM_011509366.1:c.2843G=	XP_011507668.1:p.Cys948=
XM_011509367.1:c.2843G=	XP_011507669.1:p.Cys948=
XM_011509368.1:c.2261G=	XP_011507670.1:p.Cys754=
XM_011509369.1:c.1286G=	XP_011507671.1:p.Cys429=
XM_011509365.2:c.2843G=	XP_011507667.1:p.Cys948=
XM_011509369.2:c.1286G=	XP_011507671.1:p.Cys429=
XM_017000851.1:c.2000G=	XP_016856340.1:p.Cys667=
XM_017000852.1:c.2978G=	XP_016856341.1:p.Cys993=
NM_201253.3:c.2843G= MANE Select	NP_957705.1:p.Cys948=
NM_001193640.2:c.2507G=	NP_001180569.1:p.Cys836=
NM_001257965.2:c.2771G=	NP_001244894.1:p.Cys924=
NR_047563.2:n.2796G=
NR_047564.2:n.3004G=
NM_001257966.2:c.2129-894G=	NP_001244895.1:n.2129-894G=