Canonical Allele Identifier: CA483559248

Gene: RB1

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48380062C>A , CM000675.2:g.48380062C>A	GRCh38
NC_000013.10:g.48954198C>A , CM000675.1:g.48954198C>A	GRCh37
NC_000013.9:g.47852199C>A	NCBI36
NG_009009.1:g.81316C>A , LRG_517:g.81316C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1399C>A MANE Select	ENSP00000267163.4:p.Arg467=
ENST00000650461.1:c.1399C>A	ENSP00000497193.1:p.Arg467=
ENST00000267163.4:c.1399C>A	ENSP00000267163.4:p.Arg467=
NM_000321.2:c.1399C>A , LRG_517t1:c.1399C>A	NP_000312.2:p.Arg467=
XM_011535171.1:c.1138C>A	XP_011533473.1:p.Arg380=
XM_011535171.2:c.1138C>A	XP_011533473.1:p.Arg380=
NM_000321.3:c.1399C>A MANE Select	NP_000312.2:p.Arg467=