Canonical Allele Identifier: CA388166828
Gene: RB1 HGNC NCBI

Linked Data

dbSNP Id: rs2138336207

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48459769G>C , CM000675.2:g.48459769G>C GRCh38
NC_000013.10:g.49033905G>C , CM000675.1:g.49033905G>C GRCh37
NC_000013.9:g.47931906G>C NCBI36
NG_009009.1:g.161023G>C , LRG_517:g.161023G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.2042G>C MANE Select ENSP00000267163.4:p.Trp681Ser
ENST00000643064.1:c.194+78326G>C
ENST00000650461.1:c.2042G>C ENSP00000497193.1:p.Trp681Ser
ENST00000267163.4:c.2042G>C ENSP00000267163.4:p.Trp681Ser
NM_000321.2:c.2042G>C , LRG_517t1:c.2042G>C NP_000312.2:p.Trp681Ser
XM_011535171.1:c.1781G>C XP_011533473.1:p.Trp594Ser
XM_011535171.2:c.1781G>C XP_011533473.1:p.Trp594Ser
NM_000321.3:c.2042G>C MANE Select NP_000312.2:p.Trp681Ser