Canonical Allele Identifier: CA388162908

Gene: RB1

Linked Data

• dbSNP Id: rs1948523510
• MyVariant Identifiers: chr13:g.48954369C>T (hg19) ; chr13:g.48380233C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48380233C>T , CM000675.2:g.48380233C>T	GRCh38
NC_000013.10:g.48954369C>T , CM000675.1:g.48954369C>T	GRCh37
NC_000013.9:g.47852370C>T	NCBI36
NG_009009.1:g.81487C>T , LRG_517:g.81487C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.1490C>T MANE Select	ENSP00000267163.4:p.Thr497Ile
ENST00000650461.1:c.1490C>T	ENSP00000497193.1:p.Thr497Ile
ENST00000267163.4:c.1490C>T	ENSP00000267163.4:p.Thr497Ile
NM_000321.2:c.1490C>T , LRG_517t1:c.1490C>T	NP_000312.2:p.Thr497Ile
XM_011535171.1:c.1229C>T	XP_011533473.1:p.Thr410Ile
XM_011535171.2:c.1229C>T	XP_011533473.1:p.Thr410Ile
NM_000321.3:c.1490C>T MANE Select	NP_000312.2:p.Thr497Ile