Canonical Allele Identifier: CA388160075

Gene: RB1

Linked Data

• ClinVar Variation Id: 2837259
• ClinVar RCV Id: RCV003628311
• dbSNP Id: rs1952680793
• MyVariant Identifiers: chr13:g.48939099C>T (hg19) ; chr13:g.48364963C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48364963C>T , CM000675.2:g.48364963C>T	GRCh38
NC_000013.10:g.48939099C>T , CM000675.1:g.48939099C>T	GRCh37
NC_000013.9:g.47837100C>T	NCBI36
NG_009009.1:g.66217C>T , LRG_517:g.66217C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000267163.6:c.931C>T MANE Select	ENSP00000267163.4:p.Leu311Phe
ENST00000650461.1:c.931C>T	ENSP00000497193.1:p.Leu311Phe
ENST00000267163.4:c.931C>T	ENSP00000267163.4:p.Leu311Phe
NM_000321.2:c.931C>T , LRG_517t1:c.931C>T	NP_000312.2:p.Leu311Phe
XM_011535171.1:c.670C>T	XP_011533473.1:p.Leu224Phe
XM_011535171.2:c.670C>T	XP_011533473.1:p.Leu224Phe
XR_002957522.1:n.135G>A
NM_000321.3:c.931C>T MANE Select	NP_000312.2:p.Leu311Phe