Canonical Allele Identifier: CA388250300

Gene: RB1

Linked Data

• dbSNP Id: rs2138027727
• MyVariant Identifiers: chr13:g.48878138G>C (hg19) ; chr13:g.48304002G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48304002G>C , CM000675.2:g.48304002G>C	GRCh38
NC_000013.10:g.48878138G>C , CM000675.1:g.48878138G>C	GRCh37
NC_000013.9:g.47776139G>C	NCBI36
NG_009009.1:g.5256G>C , LRG_517:g.5256G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.90G>C MANE Select	ENSP00000267163.4:p.Glu30Asp
ENST00000646097.1:c.90G>C	ENSP00000496556.1:p.Glu30Asp
ENST00000650461.1:c.90G>C	ENSP00000497193.1:p.Glu30Asp
ENST00000267163.4:c.90G>C	ENSP00000267163.4:p.Glu30Asp
ENST00000467505.5:c.90G>C	ENSP00000434702.1:p.Glu30Asp
ENST00000525036.1:n.252G>C
NM_000321.2:c.90G>C , LRG_517t1:c.90G>C	NP_000312.2:p.Glu30Asp
NM_000321.3:c.90G>C MANE Select	NP_000312.2:p.Glu30Asp