Canonical Allele Identifier: CA388162887
Gene: RB1 HGNC NCBI

Linked Data

dbSNP Id: rs1465200753

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48380223G>C , CM000675.2:g.48380223G>C GRCh38
NC_000013.10:g.48954359G>C , CM000675.1:g.48954359G>C GRCh37
NC_000013.9:g.47852360G>C NCBI36
NG_009009.1:g.81477G>C , LRG_517:g.81477G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1480G>C MANE Select ENSP00000267163.4:p.Val494Leu
ENST00000650461.1:c.1480G>C ENSP00000497193.1:p.Val494Leu
ENST00000267163.4:c.1480G>C ENSP00000267163.4:p.Val494Leu
NM_000321.2:c.1480G>C , LRG_517t1:c.1480G>C NP_000312.2:p.Val494Leu
XM_011535171.1:c.1219G>C XP_011533473.1:p.Val407Leu
XM_011535171.2:c.1219G>C XP_011533473.1:p.Val407Leu
NM_000321.3:c.1480G>C MANE Select NP_000312.2:p.Val494Leu