Canonical Allele Identifier: CA388166945
Gene: RB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48459818C>A , CM000675.2:g.48459818C>A GRCh38
NC_000013.10:g.49033954C>A , CM000675.1:g.49033954C>A GRCh37
NC_000013.9:g.47931955C>A NCBI36
NG_009009.1:g.161072C>A , LRG_517:g.161072C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.2091C>A MANE Select ENSP00000267163.4:p.Asp697Glu
ENST00000643064.1:c.194+78375C>A
ENST00000650461.1:c.2091C>A ENSP00000497193.1:p.Asp697Glu
ENST00000267163.4:c.2091C>A ENSP00000267163.4:p.Asp697Glu
NM_000321.2:c.2091C>A , LRG_517t1:c.2091C>A NP_000312.2:p.Asp697Glu
XM_011535171.1:c.1830C>A XP_011533473.1:p.Asp610Glu
XM_011535171.2:c.1830C>A XP_011533473.1:p.Asp610Glu
NM_000321.3:c.2091C>A MANE Select NP_000312.2:p.Asp697Glu