Canonical Allele Identifier: CA2089972485
Gene: RB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48348993G= , CM000675.2:g.48348993G= GRCh38
NC_000013.10:g.48923129G= , CM000675.1:g.48923129G= GRCh37
NC_000013.9:g.47821130G= NCBI36
NG_009009.1:g.50247G= , LRG_517:g.50247G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.577G= MANE Select ENSP00000267163.4:p.Val193=
ENST00000650461.1:c.577G= ENSP00000497193.1:p.Val193=
ENST00000267163.4:c.577G= ENSP00000267163.4:p.Val193=
ENST00000467505.5:c.138-11024G= ENSP00000434702.1:n.138-11024G=
ENST00000525036.1:n.739G=
NM_000321.2:c.577G= , LRG_517t1:c.577G= NP_000312.2:p.Val193=
XM_011535171.1:c.316G= XP_011533473.1:p.Val106=
XM_011535171.2:c.316G= XP_011533473.1:p.Val106=
NM_000321.3:c.577G= MANE Select NP_000312.2:p.Val193=