Canonical Allele Identifier: CA388166779
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1046944
dbSNP Id: rs1949384188

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48459747C>T , CM000675.2:g.48459747C>T GRCh38
NC_000013.10:g.49033883C>T , CM000675.1:g.49033883C>T GRCh37
NC_000013.9:g.47931884C>T NCBI36
NG_009009.1:g.161001C>T , LRG_517:g.161001C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.2020C>T MANE Select ENSP00000267163.4:p.Pro674Ser
ENST00000643064.1:c.194+78304C>T
ENST00000650461.1:c.2020C>T ENSP00000497193.1:p.Pro674Ser
ENST00000267163.4:c.2020C>T ENSP00000267163.4:p.Pro674Ser
NM_000321.2:c.2020C>T , LRG_517t1:c.2020C>T NP_000312.2:p.Pro674Ser
XM_011535171.1:c.1759C>T XP_011533473.1:p.Pro587Ser
XM_011535171.2:c.1759C>T XP_011533473.1:p.Pro587Ser
NM_000321.3:c.2020C>T MANE Select NP_000312.2:p.Pro674Ser