Canonical Allele Identifier: CA2089972477
Gene: RB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48348985T= , CM000675.2:g.48348985T= GRCh38
NC_000013.10:g.48923121T= , CM000675.1:g.48923121T= GRCh37
NC_000013.9:g.47821122T= NCBI36
NG_009009.1:g.50239T= , LRG_517:g.50239T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.569T= MANE Select ENSP00000267163.4:p.Val190=
ENST00000650461.1:c.569T= ENSP00000497193.1:p.Val190=
ENST00000267163.4:c.569T= ENSP00000267163.4:p.Val190=
ENST00000467505.5:c.138-11032T= ENSP00000434702.1:n.138-11032T=
ENST00000525036.1:n.731T=
NM_000321.2:c.569T= , LRG_517t1:c.569T= NP_000312.2:p.Val190=
XM_011535171.1:c.308T= XP_011533473.1:p.Val103=
XM_011535171.2:c.308T= XP_011533473.1:p.Val103=
NM_000321.3:c.569T= MANE Select NP_000312.2:p.Val190=