Canonical Allele Identifier: CA388163586

Gene: RB1

Linked Data

• dbSNP Id: rs1331702695
• MyVariant Identifiers: chr13:g.48955460T>A (hg19) ; chr13:g.48381324T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48381324T>A , CM000675.2:g.48381324T>A	GRCh38
NC_000013.10:g.48955460T>A , CM000675.1:g.48955460T>A	GRCh37
NC_000013.9:g.47853461T>A	NCBI36
NG_009009.1:g.82578T>A , LRG_517:g.82578T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1576T>A MANE Select	ENSP00000267163.4:p.Phe526Ile
ENST00000643064.1:c.75T>A
ENST00000650461.1:c.1576T>A	ENSP00000497193.1:p.Phe526Ile
ENST00000267163.4:c.1576T>A	ENSP00000267163.4:p.Phe526Ile
NM_000321.2:c.1576T>A , LRG_517t1:c.1576T>A	NP_000312.2:p.Phe526Ile
XM_011535171.1:c.1315T>A	XP_011533473.1:p.Phe439Ile
XM_011535171.2:c.1315T>A	XP_011533473.1:p.Phe439Ile
NM_000321.3:c.1576T>A MANE Select	NP_000312.2:p.Phe526Ile