Canonical Allele Identifier: CA1218063257

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197421743T= , CM000663.2:g.197421743T=	GRCh38
NC_000001.10:g.197390873T= , CM000663.1:g.197390873T=	GRCh37
NC_000001.9:g.195657496T=	NCBI36
NG_008483.1:g.158466T=
NG_008483.2:g.225282T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.1915T= MANE Select	ENSP00000356370.3:p.Phe639=
ENST00000638467.1:c.1915T=	ENSP00000491102.1:p.Phe639=
ENST00000681519.1:c.796T=	ENSP00000505267.1:p.Phe266=
ENST00000367397.1:c.58T=	ENSP00000356367.1:p.Phe20=
ENST00000367399.6:c.1579T=	ENSP00000356369.2:p.Phe527=
ENST00000367400.7:c.1915T=	ENSP00000356370.3:p.Phe639=
ENST00000484075.5:c.1915T=	ENSP00000433932.1:p.Phe639=
ENST00000535699.5:c.1708T=	ENSP00000438786.1:p.Phe570=
ENST00000538660.5:c.1915T=	ENSP00000438091.1:p.Phe639=
NM_001193640.1:c.1579T=	NP_001180569.1:p.Phe527=
NM_001257965.1:c.1708T=	NP_001244894.1:p.Phe570=
NM_001257966.1:c.1915T=	NP_001244895.1:p.Phe639=
NM_201253.2:c.1915T=	NP_957705.1:p.Phe639=
NR_047563.1:n.1923-7T=
NR_047564.1:n.2124T=
XM_011509365.1:c.1915T=	XP_011507667.1:p.Phe639=
XM_011509366.1:c.1915T=	XP_011507668.1:p.Phe639=
XM_011509367.1:c.1915T=	XP_011507669.1:p.Phe639=
XM_011509368.1:c.1333T=	XP_011507670.1:p.Phe445=
XM_011509369.1:c.358T=	XP_011507671.1:p.Phe120=
XM_011509365.2:c.1915T=	XP_011507667.1:p.Phe639=
XM_011509369.2:c.358T=	XP_011507671.1:p.Phe120=
XM_017000851.1:c.1072T=	XP_016856340.1:p.Phe358=
XM_017000852.1:c.1915T=	XP_016856341.1:p.Phe639=
NM_201253.3:c.1915T= MANE Select	NP_957705.1:p.Phe639=
NM_001193640.2:c.1579T=	NP_001180569.1:p.Phe527=
NM_001257965.2:c.1708T=	NP_001244894.1:p.Phe570=
NR_047563.2:n.1875-7T=
NR_047564.2:n.2076T=
NM_001257966.2:c.1915T=	NP_001244895.1:p.Phe639=