Canonical Allele Identifier: CA2090008138
Gene: RB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48459792C= , CM000675.2:g.48459792C= GRCh38
NC_000013.10:g.49033928C= , CM000675.1:g.49033928C= GRCh37
NC_000013.9:g.47931929C= NCBI36
NG_009009.1:g.161046C= , LRG_517:g.161046C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.2065C= MANE Select ENSP00000267163.4:p.Gln689=
ENST00000643064.1:c.194+78349C=
ENST00000650461.1:c.2065C= ENSP00000497193.1:p.Gln689=
ENST00000267163.4:c.2065C= ENSP00000267163.4:p.Gln689=
NM_000321.2:c.2065C= , LRG_517t1:c.2065C= NP_000312.2:p.Gln689=
XM_011535171.1:c.1804C= XP_011533473.1:p.Gln602=
XM_011535171.2:c.1804C= XP_011533473.1:p.Gln602=
NM_000321.3:c.2065C= MANE Select NP_000312.2:p.Gln689=