Canonical Allele Identifier: CA2090008154
Gene: RB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48459798G= , CM000675.2:g.48459798G= GRCh38
NC_000013.10:g.49033934G= , CM000675.1:g.49033934G= GRCh37
NC_000013.9:g.47931935G= NCBI36
NG_009009.1:g.161052G= , LRG_517:g.161052G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.2071G= MANE Select ENSP00000267163.4:p.Glu691=
ENST00000643064.1:c.194+78355G=
ENST00000650461.1:c.2071G= ENSP00000497193.1:p.Glu691=
ENST00000267163.4:c.2071G= ENSP00000267163.4:p.Glu691=
NM_000321.2:c.2071G= , LRG_517t1:c.2071G= NP_000312.2:p.Glu691=
XM_011535171.1:c.1810G= XP_011533473.1:p.Glu604=
XM_011535171.2:c.1810G= XP_011533473.1:p.Glu604=
NM_000321.3:c.2071G= MANE Select NP_000312.2:p.Glu691=