Canonical Allele Identifier: CA388162862
Gene: RB1 HGNC NCBI

Linked Data

dbSNP Id: rs1131690877

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48380209G>T , CM000675.2:g.48380209G>T GRCh38
NC_000013.10:g.48954345G>T , CM000675.1:g.48954345G>T GRCh37
NC_000013.9:g.47852346G>T NCBI36
NG_009009.1:g.81463G>T , LRG_517:g.81463G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1466G>T MANE Select ENSP00000267163.4:p.Cys489Phe
ENST00000650461.1:c.1466G>T ENSP00000497193.1:p.Cys489Phe
ENST00000267163.4:c.1466G>T ENSP00000267163.4:p.Cys489Phe
NM_000321.2:c.1466G>T , LRG_517t1:c.1466G>T NP_000312.2:p.Cys489Phe
XM_011535171.1:c.1205G>T XP_011533473.1:p.Cys402Phe
XM_011535171.2:c.1205G>T XP_011533473.1:p.Cys402Phe
NM_000321.3:c.1466G>T MANE Select NP_000312.2:p.Cys489Phe