Canonical Allele Identifier: CA1218068648

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197434732C= , CM000663.2:g.197434732C=	GRCh38
NC_000001.10:g.197403862C= , CM000663.1:g.197403862C=	GRCh37
NC_000001.9:g.195670485C=	NCBI36
NG_008483.1:g.171455C=
NG_008483.2:g.238271C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2869C= MANE Select	ENSP00000356370.3:p.Gln957=
ENST00000638467.1:c.2869C=	ENSP00000491102.1:p.Gln957=
ENST00000681519.1:c.1750C=	ENSP00000505267.1:p.Gln584=
ENST00000367397.1:c.1012C=	ENSP00000356367.1:p.Gln338=
ENST00000367399.6:c.2533C=	ENSP00000356369.2:p.Gln845=
ENST00000367400.7:c.2869C=	ENSP00000356370.3:p.Gln957=
ENST00000484075.5:c.2869C=	ENSP00000433932.1:p.Gln957=
ENST00000535699.5:c.2797C=	ENSP00000438786.1:p.Gln933=
ENST00000538660.5:c.2129-868C=	ENSP00000438091.1:n.2129-868C=
NM_001193640.1:c.2533C=	NP_001180569.1:p.Gln845=
NM_001257965.1:c.2797C=	NP_001244894.1:p.Gln933=
NM_001257966.1:c.2129-868C=	NP_001244895.1:n.2129-868C=
NM_201253.2:c.2869C=	NP_957705.1:p.Gln957=
NR_047563.1:n.2870C=
NR_047564.1:n.3078C=
XM_011509365.1:c.2869C=	XP_011507667.1:p.Gln957=
XM_011509366.1:c.2869C=	XP_011507668.1:p.Gln957=
XM_011509367.1:c.2869C=	XP_011507669.1:p.Gln957=
XM_011509368.1:c.2287C=	XP_011507670.1:p.Gln763=
XM_011509369.1:c.1312C=	XP_011507671.1:p.Gln438=
XM_011509365.2:c.2869C=	XP_011507667.1:p.Gln957=
XM_011509369.2:c.1312C=	XP_011507671.1:p.Gln438=
XM_017000851.1:c.2026C=	XP_016856340.1:p.Gln676=
XM_017000852.1:c.3004C=	XP_016856341.1:p.Gln1002=
NM_201253.3:c.2869C= MANE Select	NP_957705.1:p.Gln957=
NM_001193640.2:c.2533C=	NP_001180569.1:p.Gln845=
NM_001257965.2:c.2797C=	NP_001244894.1:p.Gln933=
NR_047563.2:n.2822C=
NR_047564.2:n.3030C=
NM_001257966.2:c.2129-868C=	NP_001244895.1:n.2129-868C=