Canonical Allele Identifier: CA388166784
Gene: RB1 HGNC NCBI

Linked Data

dbSNP Id: rs137853295

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48459750G>C , CM000675.2:g.48459750G>C GRCh38
NC_000013.10:g.49033886G>C , CM000675.1:g.49033886G>C GRCh37
NC_000013.9:g.47931887G>C NCBI36
NG_009009.1:g.161004G>C , LRG_517:g.161004G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.2023G>C MANE Select ENSP00000267163.4:p.Glu675Gln
ENST00000643064.1:c.194+78307G>C
ENST00000650461.1:c.2023G>C ENSP00000497193.1:p.Glu675Gln
ENST00000267163.4:c.2023G>C ENSP00000267163.4:p.Glu675Gln
NM_000321.2:c.2023G>C , LRG_517t1:c.2023G>C NP_000312.2:p.Glu675Gln
XM_011535171.1:c.1762G>C XP_011533473.1:p.Glu588Gln
XM_011535171.2:c.1762G>C XP_011533473.1:p.Glu588Gln
NM_000321.3:c.2023G>C MANE Select NP_000312.2:p.Glu675Gln