Canonical Allele Identifier: CA388162904

Gene: RB1

Linked Data

• dbSNP Id: rs560971404
• gnomAD v4: 13-48380230-C-T
• MyVariant Identifiers: chr13:g.48954366C>T (hg19) ; chr13:g.48380230C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48380230C>T , CM000675.2:g.48380230C>T	GRCh38
NC_000013.10:g.48954366C>T , CM000675.1:g.48954366C>T	GRCh37
NC_000013.9:g.47852367C>T	NCBI36
NG_009009.1:g.81484C>T , LRG_517:g.81484C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000267163.6:c.1487C>T MANE Select	ENSP00000267163.4:p.Ala496Val
ENST00000650461.1:c.1487C>T	ENSP00000497193.1:p.Ala496Val
ENST00000267163.4:c.1487C>T	ENSP00000267163.4:p.Ala496Val
NM_000321.2:c.1487C>T , LRG_517t1:c.1487C>T	NP_000312.2:p.Ala496Val
XM_011535171.1:c.1226C>T	XP_011533473.1:p.Ala409Val
XM_011535171.2:c.1226C>T	XP_011533473.1:p.Ala409Val
NM_000321.3:c.1487C>T MANE Select	NP_000312.2:p.Ala496Val