Canonical Allele Identifier: CA2018068535
Community Standard Title: NM_000321.3(RB1):c.2664-10T=
Gene: RB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48477345T= , CM000675.2:g.48477345T= GRCh38
NC_000013.10:g.49051481T= , CM000675.1:g.49051481T= GRCh37
NC_000013.9:g.47949482T= NCBI36
NG_009009.1:g.178599T= , LRG_517:g.178599T=

Transcript Alleles

HGVS Amino-acid Change
NM_000321.3:c.2664-10T= MANE Select NP_000312.2:n.2664-10T=
ENST00000267163.6:c.2664-10T= MANE Select ENSP00000267163.4:n.2664-10T=
NM_000321.2:c.2664-10T= , LRG_517t1:c.2664-10T= NP_000312.2:n.2664-10T=
ENST00000267163.4:c.2664-10T= ENSP00000267163.4:n.2664-10T=
ENST00000484879.1:n.398-10T=
ENST00000531171.5:n.267-10T=
ENST00000643064.1:c.194+95902T=
ENST00000650461.1:c.2664-10T= ENSP00000497193.1:n.2664-10T=
XM_011535171.1:c.2403-10T= XP_011533473.1:n.2403-10T=
XM_011535171.2:c.2403-10T= XP_011533473.1:n.2403-10T=