Canonical Allele Identifier: CA1218066331

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427840C= , CM000663.2:g.197427840C=	GRCh38
NC_000001.10:g.197396970C= , CM000663.1:g.197396970C=	GRCh37
NC_000001.9:g.195663593C=	NCBI36
NG_008483.1:g.164563C=
NG_008483.2:g.231379C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2515C= MANE Select	ENSP00000356370.3:p.Gln839=
ENST00000638467.1:c.2515C=	ENSP00000491102.1:p.Gln839=
ENST00000681519.1:c.1396C=	ENSP00000505267.1:p.Gln466=
ENST00000367397.1:c.658C=	ENSP00000356367.1:p.Gln220=
ENST00000367399.6:c.2179C=	ENSP00000356369.2:p.Gln727=
ENST00000367400.7:c.2515C=	ENSP00000356370.3:p.Gln839=
ENST00000484075.5:c.2515C=	ENSP00000433932.1:p.Gln839=
ENST00000535699.5:c.2308C=	ENSP00000438786.1:p.Gln770=
ENST00000538660.5:c.2128+5884C=	ENSP00000438091.1:n.2128+5884C=
NM_001193640.1:c.2179C=	NP_001180569.1:p.Gln727=
NM_001257965.1:c.2308C=	NP_001244894.1:p.Gln770=
NM_001257966.1:c.2128+5884C=	NP_001244895.1:n.2128+5884C=
NM_201253.2:c.2515C=	NP_957705.1:p.Gln839=
NR_047563.1:n.2516C=
NR_047564.1:n.2724C=
XM_011509365.1:c.2515C=	XP_011507667.1:p.Gln839=
XM_011509366.1:c.2515C=	XP_011507668.1:p.Gln839=
XM_011509367.1:c.2515C=	XP_011507669.1:p.Gln839=
XM_011509368.1:c.1933C=	XP_011507670.1:p.Gln645=
XM_011509369.1:c.958C=	XP_011507671.1:p.Gln320=
XM_011509365.2:c.2515C=	XP_011507667.1:p.Gln839=
XM_011509369.2:c.958C=	XP_011507671.1:p.Gln320=
XM_017000851.1:c.1672C=	XP_016856340.1:p.Gln558=
XM_017000852.1:c.2515C=	XP_016856341.1:p.Gln839=
NM_201253.3:c.2515C= MANE Select	NP_957705.1:p.Gln839=
NM_001193640.2:c.2179C=	NP_001180569.1:p.Gln727=
NM_001257965.2:c.2308C=	NP_001244894.1:p.Gln770=
NR_047563.2:n.2468C=
NR_047564.2:n.2676C=
NM_001257966.2:c.2128+5884C=	NP_001244895.1:n.2128+5884C=