Canonical Allele Identifier: CA388250372
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1010579
dbSNP Id: rs775161380

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48304033G>A , CM000675.2:g.48304033G>A GRCh38
NC_000013.10:g.48878169G>A , CM000675.1:g.48878169G>A GRCh37
NC_000013.9:g.47776170G>A NCBI36
NG_009009.1:g.5287G>A , LRG_517:g.5287G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.121G>A MANE Select ENSP00000267163.4:p.Asp41Asn
ENST00000646097.1:c.121G>A ENSP00000496556.1:p.Asp41Asn
ENST00000650461.1:c.121G>A ENSP00000497193.1:p.Asp41Asn
ENST00000267163.4:c.121G>A ENSP00000267163.4:p.Asp41Asn
ENST00000467505.5:c.121G>A ENSP00000434702.1:p.Asp41Asn
ENST00000525036.1:n.283G>A
NM_000321.2:c.121G>A , LRG_517t1:c.121G>A NP_000312.2:p.Asp41Asn
NM_000321.3:c.121G>A MANE Select NP_000312.2:p.Asp41Asn