Canonical Allele Identifier: CA2090008150
Gene: RB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48459796A= , CM000675.2:g.48459796A= GRCh38
NC_000013.10:g.49033932A= , CM000675.1:g.49033932A= GRCh37
NC_000013.9:g.47931933A= NCBI36
NG_009009.1:g.161050A= , LRG_517:g.161050A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.2069A= MANE Select ENSP00000267163.4:p.Asn690=
ENST00000643064.1:c.194+78353A=
ENST00000650461.1:c.2069A= ENSP00000497193.1:p.Asn690=
ENST00000267163.4:c.2069A= ENSP00000267163.4:p.Asn690=
NM_000321.2:c.2069A= , LRG_517t1:c.2069A= NP_000312.2:p.Asn690=
XM_011535171.1:c.1808A= XP_011533473.1:p.Asn603=
XM_011535171.2:c.1808A= XP_011533473.1:p.Asn603=
NM_000321.3:c.2069A= MANE Select NP_000312.2:p.Asn690=