Canonical Allele Identifier: CA2090008079
Gene: RB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48459762A= , CM000675.2:g.48459762A= GRCh38
NC_000013.10:g.49033898A= , CM000675.1:g.49033898A= GRCh37
NC_000013.9:g.47931899A= NCBI36
NG_009009.1:g.161016A= , LRG_517:g.161016A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.2035A= MANE Select ENSP00000267163.4:p.Ile679=
ENST00000643064.1:c.194+78319A=
ENST00000650461.1:c.2035A= ENSP00000497193.1:p.Ile679=
ENST00000267163.4:c.2035A= ENSP00000267163.4:p.Ile679=
NM_000321.2:c.2035A= , LRG_517t1:c.2035A= NP_000312.2:p.Ile679=
XM_011535171.1:c.1774A= XP_011533473.1:p.Ile592=
XM_011535171.2:c.1774A= XP_011533473.1:p.Ile592=
NM_000321.3:c.2035A= MANE Select NP_000312.2:p.Ile679=