Canonical Allele Identifier: CA2089972526
Gene: RB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48381417A= , CM000675.2:g.48381417A= GRCh38
NC_000013.10:g.48955553A= , CM000675.1:g.48955553A= GRCh37
NC_000013.9:g.47853554A= NCBI36
NG_009009.1:g.82671A= , LRG_517:g.82671A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1669A= MANE Select ENSP00000267163.4:p.Ile557=
ENST00000643064.1:c.168A=
ENST00000650461.1:c.1669A= ENSP00000497193.1:p.Ile557=
ENST00000267163.4:c.1669A= ENSP00000267163.4:p.Ile557=
NM_000321.2:c.1669A= , LRG_517t1:c.1669A= NP_000312.2:p.Ile557=
XM_011535171.1:c.1408A= XP_011533473.1:p.Ile470=
XM_011535171.2:c.1408A= XP_011533473.1:p.Ile470=
NM_000321.3:c.1669A= MANE Select NP_000312.2:p.Ile557=