Canonical Allele Identifier: CA2090021064
Gene: RB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48476781C= , CM000675.2:g.48476781C= GRCh38
NC_000013.10:g.49050917C= , CM000675.1:g.49050917C= GRCh37
NC_000013.9:g.47948918C= NCBI36
NG_009009.1:g.178035C= , LRG_517:g.178035C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.2601C= MANE Select ENSP00000267163.4:p.Asn867=
ENST00000643064.1:c.194+95338C=
ENST00000650461.1:c.2601C= ENSP00000497193.1:p.Asn867=
ENST00000267163.4:c.2601C= ENSP00000267163.4:p.Asn867=
ENST00000484879.1:n.335C=
ENST00000531171.5:n.204C=
NM_000321.2:c.2601C= , LRG_517t1:c.2601C= NP_000312.2:p.Asn867=
XM_011535171.1:c.2340C= XP_011533473.1:p.Asn780=
XM_011535171.2:c.2340C= XP_011533473.1:p.Asn780=
NM_000321.3:c.2601C= MANE Select NP_000312.2:p.Asn867=