Canonical Allele Identifier: CA1218068753

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197435002C= , CM000663.2:g.197435002C=	GRCh38
NC_000001.10:g.197404132C= , CM000663.1:g.197404132C=	GRCh37
NC_000001.9:g.195670755C=	NCBI36
NG_008483.1:g.171725C=
NG_008483.2:g.238541C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.3139C= MANE Select	ENSP00000356370.3:p.Gln1047=
ENST00000638467.1:c.3139C=	ENSP00000491102.1:p.Gln1047=
ENST00000681519.1:c.2020C=	ENSP00000505267.1:p.Gln674=
ENST00000367397.1:c.1282C=	ENSP00000356367.1:p.Gln428=
ENST00000367399.6:c.2803C=	ENSP00000356369.2:p.Gln935=
ENST00000367400.7:c.3139C=	ENSP00000356370.3:p.Gln1047=
ENST00000484075.5:c.3139C=	ENSP00000433932.1:p.Gln1047=
ENST00000535699.5:c.3067C=	ENSP00000438786.1:p.Gln1023=
ENST00000538660.5:c.2129-598C=	ENSP00000438091.1:n.2129-598C=
NM_001193640.1:c.2803C=	NP_001180569.1:p.Gln935=
NM_001257965.1:c.3067C=	NP_001244894.1:p.Gln1023=
NM_001257966.1:c.2129-598C=	NP_001244895.1:n.2129-598C=
NM_201253.2:c.3139C=	NP_957705.1:p.Gln1047=
NR_047563.1:n.3140C=
NR_047564.1:n.3348C=
XM_011509365.1:c.3139C=	XP_011507667.1:p.Gln1047=
XM_011509366.1:c.3139C=	XP_011507668.1:p.Gln1047=
XM_011509367.1:c.3139C=	XP_011507669.1:p.Gln1047=
XM_011509368.1:c.2557C=	XP_011507670.1:p.Gln853=
XM_011509369.1:c.1582C=	XP_011507671.1:p.Gln528=
XM_011509365.2:c.3139C=	XP_011507667.1:p.Gln1047=
XM_011509369.2:c.1582C=	XP_011507671.1:p.Gln528=
XM_017000851.1:c.2296C=	XP_016856340.1:p.Gln766=
XM_017000852.1:c.3274C=	XP_016856341.1:p.Gln1092=
NM_201253.3:c.3139C= MANE Select	NP_957705.1:p.Gln1047=
NM_001193640.2:c.2803C=	NP_001180569.1:p.Gln935=
NM_001257965.2:c.3067C=	NP_001244894.1:p.Gln1023=
NR_047563.2:n.3092C=
NR_047564.2:n.3300C=
NM_001257966.2:c.2129-598C=	NP_001244895.1:n.2129-598C=