Canonical Allele Identifier: CA388250296

Gene: RB1

Linked Data

• dbSNP Id: rs1555279228
• gnomAD v4: 13-48304000-G-T
• MyVariant Identifiers: chr13:g.48878136G>T (hg19) ; chr13:g.48304000G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48304000G>T , CM000675.2:g.48304000G>T	GRCh38
NC_000013.10:g.48878136G>T , CM000675.1:g.48878136G>T	GRCh37
NC_000013.9:g.47776137G>T	NCBI36
NG_009009.1:g.5254G>T , LRG_517:g.5254G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.88G>T MANE Select	ENSP00000267163.4:p.Glu30Ter
ENST00000646097.1:c.88G>T	ENSP00000496556.1:p.Glu30Ter
ENST00000650461.1:c.88G>T	ENSP00000497193.1:p.Glu30Ter
ENST00000267163.4:c.88G>T	ENSP00000267163.4:p.Glu30Ter
ENST00000467505.5:c.88G>T	ENSP00000434702.1:p.Glu30Ter
ENST00000525036.1:n.250G>T
NM_000321.2:c.88G>T , LRG_517t1:c.88G>T	NP_000312.2:p.Glu30Ter
NM_000321.3:c.88G>T MANE Select	NP_000312.2:p.Glu30Ter