Canonical Allele Identifier: CA1218087297

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477879G= , CM000663.2:g.197477879G=	GRCh38
NC_000001.10:g.197447009G= , CM000663.1:g.197447009G=	GRCh37
NC_000001.9:g.195713632G=	NCBI36
NG_008483.1:g.214602G=
NG_008483.2:g.281418G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4221G= MANE Select	ENSP00000356370.3:p.Ter1407=
ENST00000367399.6:c.3885G=	ENSP00000356369.2:p.Ter1295=
ENST00000367400.7:c.4221G=	ENSP00000356370.3:p.Ter1407=
ENST00000448952.1:c.455G=	ENSP00000395407.1:n.455G=
ENST00000484075.5:c.*332G=	ENSP00000433932.1:n.*332G=
ENST00000535699.5:c.4149G=	ENSP00000438786.1:p.Ter1383=
ENST00000538660.5:c.2613G=	ENSP00000438091.1:p.Ter871=
NM_001193640.1:c.3885G=	NP_001180569.1:p.Ter1295=
NM_001257965.1:c.4149G=	NP_001244894.1:p.Ter1383=
NM_001257966.1:c.2613G=	NP_001244895.1:p.Ter871=
NM_201253.2:c.4221G=	NP_957705.1:p.Ter1407=
NR_047563.1:n.4222G=
NR_047564.1:n.4672G=
XM_011509366.1:c.*326G=	XP_011507668.1:n.*326G=
XM_011509367.1:c.*200G=	XP_011507669.1:n.*200G=
XM_011509368.1:c.3639G=	XP_011507670.1:p.Ter1213=
XM_011509369.1:c.2664G=	XP_011507671.1:p.Ter888=
XM_011509369.2:c.2664G=	XP_011507671.1:p.Ter888=
XM_017000851.1:c.3378G=	XP_016856340.1:p.Ter1126=
XM_017000852.1:c.4356G=	XP_016856341.1:p.Ter1452=
NM_201253.3:c.4221G= MANE Select	NP_957705.1:p.Ter1407=
NM_001193640.2:c.3885G=	NP_001180569.1:p.Ter1295=
NM_001257965.2:c.4149G=	NP_001244894.1:p.Ter1383=
NR_047563.2:n.4174G=
NR_047564.2:n.4624G=
NM_001257966.2:c.2613G=	NP_001244895.1:p.Ter871=