Canonical Allele Identifier: CA1218066235

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197427745T= , CM000663.2:g.197427745T=	GRCh38
NC_000001.10:g.197396875T= , CM000663.1:g.197396875T=	GRCh37
NC_000001.9:g.195663498T=	NCBI36
NG_008483.1:g.164468T=
NG_008483.2:g.231284T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.2420T= MANE Select	ENSP00000356370.3:p.Leu807=
ENST00000638467.1:c.2420T=	ENSP00000491102.1:p.Leu807=
ENST00000681519.1:c.1301T=	ENSP00000505267.1:p.Leu434=
ENST00000367397.1:c.563T=	ENSP00000356367.1:p.Leu188=
ENST00000367399.6:c.2084T=	ENSP00000356369.2:p.Leu695=
ENST00000367400.7:c.2420T=	ENSP00000356370.3:p.Leu807=
ENST00000480086.2:n.321T=
ENST00000484075.5:c.2420T=	ENSP00000433932.1:p.Leu807=
ENST00000535699.5:c.2213T=	ENSP00000438786.1:p.Leu738=
ENST00000538660.5:c.2128+5789T=	ENSP00000438091.1:n.2128+5789T=
NM_001193640.1:c.2084T=	NP_001180569.1:p.Leu695=
NM_001257965.1:c.2213T=	NP_001244894.1:p.Leu738=
NM_001257966.1:c.2128+5789T=	NP_001244895.1:n.2128+5789T=
NM_201253.2:c.2420T=	NP_957705.1:p.Leu807=
NR_047563.1:n.2421T=
NR_047564.1:n.2629T=
XM_011509365.1:c.2420T=	XP_011507667.1:p.Leu807=
XM_011509366.1:c.2420T=	XP_011507668.1:p.Leu807=
XM_011509367.1:c.2420T=	XP_011507669.1:p.Leu807=
XM_011509368.1:c.1838T=	XP_011507670.1:p.Leu613=
XM_011509369.1:c.863T=	XP_011507671.1:p.Leu288=
XM_011509365.2:c.2420T=	XP_011507667.1:p.Leu807=
XM_011509369.2:c.863T=	XP_011507671.1:p.Leu288=
XM_017000851.1:c.1577T=	XP_016856340.1:p.Leu526=
XM_017000852.1:c.2420T=	XP_016856341.1:p.Leu807=
NM_201253.3:c.2420T= MANE Select	NP_957705.1:p.Leu807=
NM_001193640.2:c.2084T=	NP_001180569.1:p.Leu695=
NM_001257965.2:c.2213T=	NP_001244894.1:p.Leu738=
NR_047563.2:n.2373T=
NR_047564.2:n.2581T=
NM_001257966.2:c.2128+5789T=	NP_001244895.1:n.2128+5789T=