Canonical Allele Identifier: CA388166787
Gene: RB1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48459751A>T , CM000675.2:g.48459751A>T GRCh38
NC_000013.10:g.49033887A>T , CM000675.1:g.49033887A>T GRCh37
NC_000013.9:g.47931888A>T NCBI36
NG_009009.1:g.161005A>T , LRG_517:g.161005A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.2024A>T MANE Select ENSP00000267163.4:p.Glu675Val
ENST00000643064.1:c.194+78308A>T
ENST00000650461.1:c.2024A>T ENSP00000497193.1:p.Glu675Val
ENST00000267163.4:c.2024A>T ENSP00000267163.4:p.Glu675Val
NM_000321.2:c.2024A>T , LRG_517t1:c.2024A>T NP_000312.2:p.Glu675Val
XM_011535171.1:c.1763A>T XP_011533473.1:p.Glu588Val
XM_011535171.2:c.1763A>T XP_011533473.1:p.Glu588Val
NM_000321.3:c.2024A>T MANE Select NP_000312.2:p.Glu675Val