Canonical Allele Identifier: CA1218087217

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477678G= , CM000663.2:g.197477678G=	GRCh38
NC_000001.10:g.197446808G= , CM000663.1:g.197446808G=	GRCh37
NC_000001.9:g.195713431G=	NCBI36
NG_008483.1:g.214401G=
NG_008483.2:g.281217G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4020G= MANE Select	ENSP00000356370.3:p.Leu1340=
ENST00000367399.6:c.3684G=	ENSP00000356369.2:p.Leu1228=
ENST00000367400.7:c.4020G=	ENSP00000356370.3:p.Leu1340=
ENST00000448952.1:c.254G=	ENSP00000395407.1:n.254G=
ENST00000484075.5:c.*131G=	ENSP00000433932.1:n.*131G=
ENST00000535699.5:c.3948G=	ENSP00000438786.1:p.Leu1316=
ENST00000538660.5:c.2412G=	ENSP00000438091.1:p.Leu804=
NM_001193640.1:c.3684G=	NP_001180569.1:p.Leu1228=
NM_001257965.1:c.3948G=	NP_001244894.1:p.Leu1316=
NM_001257966.1:c.2412G=	NP_001244895.1:p.Leu804=
NM_201253.2:c.4020G=	NP_957705.1:p.Leu1340=
NR_047563.1:n.4021G=
NR_047564.1:n.4471G=
XM_011509366.1:c.*125G=	XP_011507668.1:n.*125G=
XM_011509367.1:c.3893G=	XP_011507669.1:p.Ter1298=
XM_011509368.1:c.3438G=	XP_011507670.1:p.Leu1146=
XM_011509369.1:c.2463G=	XP_011507671.1:p.Leu821=
XM_011509369.2:c.2463G=	XP_011507671.1:p.Leu821=
XM_017000851.1:c.3177G=	XP_016856340.1:p.Leu1059=
XM_017000852.1:c.4155G=	XP_016856341.1:p.Leu1385=
NM_201253.3:c.4020G= MANE Select	NP_957705.1:p.Leu1340=
NM_001193640.2:c.3684G=	NP_001180569.1:p.Leu1228=
NM_001257965.2:c.3948G=	NP_001244894.1:p.Leu1316=
NR_047563.2:n.3973G=
NR_047564.2:n.4423G=
NM_001257966.2:c.2412G=	NP_001244895.1:p.Leu804=