Canonical Allele Identifier: CA1218087296

Gene: CRB1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.197477877T= , CM000663.2:g.197477877T=	GRCh38
NC_000001.10:g.197447007T= , CM000663.1:g.197447007T=	GRCh37
NC_000001.9:g.195713630T=	NCBI36
NG_008483.1:g.214600T=
NG_008483.2:g.281416T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367400.8:c.4219T= MANE Select	ENSP00000356370.3:p.Ter1407=
ENST00000367399.6:c.3883T=	ENSP00000356369.2:p.Ter1295=
ENST00000367400.7:c.4219T=	ENSP00000356370.3:p.Ter1407=
ENST00000448952.1:c.453T=	ENSP00000395407.1:n.453T=
ENST00000484075.5:c.*330T=	ENSP00000433932.1:n.*330T=
ENST00000535699.5:c.4147T=	ENSP00000438786.1:p.Ter1383=
ENST00000538660.5:c.2611T=	ENSP00000438091.1:p.Ter871=
NM_001193640.1:c.3883T=	NP_001180569.1:p.Ter1295=
NM_001257965.1:c.4147T=	NP_001244894.1:p.Ter1383=
NM_001257966.1:c.2611T=	NP_001244895.1:p.Ter871=
NM_201253.2:c.4219T=	NP_957705.1:p.Ter1407=
NR_047563.1:n.4220T=
NR_047564.1:n.4670T=
XM_011509366.1:c.*324T=	XP_011507668.1:n.*324T=
XM_011509367.1:c.*198T=	XP_011507669.1:n.*198T=
XM_011509368.1:c.3637T=	XP_011507670.1:p.Ter1213=
XM_011509369.1:c.2662T=	XP_011507671.1:p.Ter888=
XM_011509369.2:c.2662T=	XP_011507671.1:p.Ter888=
XM_017000851.1:c.3376T=	XP_016856340.1:p.Ter1126=
XM_017000852.1:c.4354T=	XP_016856341.1:p.Ter1452=
NM_201253.3:c.4219T= MANE Select	NP_957705.1:p.Ter1407=
NM_001193640.2:c.3883T=	NP_001180569.1:p.Ter1295=
NM_001257965.2:c.4147T=	NP_001244894.1:p.Ter1383=
NR_047563.2:n.4172T=
NR_047564.2:n.4622T=
NM_001257966.2:c.2611T=	NP_001244895.1:p.Ter871=