Canonical Allele Identifier: CA388156926
Gene: RB1 HGNC NCBI

Linked Data

dbSNP Id: rs1593437973

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48348979C>A , CM000675.2:g.48348979C>A GRCh38
NC_000013.10:g.48923115C>A , CM000675.1:g.48923115C>A GRCh37
NC_000013.9:g.47821116C>A NCBI36
NG_009009.1:g.50233C>A , LRG_517:g.50233C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.563C>A MANE Select ENSP00000267163.4:p.Ala188Glu
ENST00000650461.1:c.563C>A ENSP00000497193.1:p.Ala188Glu
ENST00000267163.4:c.563C>A ENSP00000267163.4:p.Ala188Glu
ENST00000467505.5:c.138-11038C>A ENSP00000434702.1:n.138-11038C>A
ENST00000525036.1:n.725C>A
NM_000321.2:c.563C>A , LRG_517t1:c.563C>A NP_000312.2:p.Ala188Glu
XM_011535171.1:c.302C>A XP_011533473.1:p.Ala101Glu
XM_011535171.2:c.302C>A XP_011533473.1:p.Ala101Glu
NM_000321.3:c.563C>A MANE Select NP_000312.2:p.Ala188Glu