Canonical Allele Identifier: CA2089970110
Community Standard Title: NM_000321.3(RB1):c.500+516C=
Gene: RB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48345715C= , CM000675.2:g.48345715C= GRCh38
NC_000013.10:g.48919851C= , CM000675.1:g.48919851C= GRCh37
NC_000013.9:g.47817852C= NCBI36
NG_009009.1:g.46969C= , LRG_517:g.46969C=

Transcript Alleles

HGVS Amino-acid Change
NM_000321.3:c.500+516C= MANE Select NP_000312.2:n.500+516C=
ENST00000267163.6:c.500+516C= MANE Select ENSP00000267163.4:n.500+516C=
NM_000321.2:c.500+516C= , LRG_517t1:c.500+516C= NP_000312.2:n.500+516C=
ENST00000267163.4:c.500+516C= ENSP00000267163.4:n.500+516C=
ENST00000467505.5:c.138-14302C= ENSP00000434702.1:n.138-14302C=
ENST00000525036.1:n.662+516C=
ENST00000650461.1:c.500+516C= ENSP00000497193.1:n.500+516C=
XM_011535171.1:c.239+516C= XP_011533473.1:n.239+516C=
XM_011535171.2:c.239+516C= XP_011533473.1:n.239+516C=