Canonical Allele Identifier: CA2090021131
Gene: RB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48476918T= , CM000675.2:g.48476918T= GRCh38
NC_000013.10:g.49051054T= , CM000675.1:g.49051054T= GRCh37
NC_000013.9:g.47949055T= NCBI36
NG_009009.1:g.178172T= , LRG_517:g.178172T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.2663+75T= MANE Select ENSP00000267163.4:n.2663+75T=
ENST00000643064.1:c.194+95475T=
ENST00000650461.1:c.2663+75T= ENSP00000497193.1:n.2663+75T=
ENST00000267163.4:c.2663+75T= ENSP00000267163.4:n.2663+75T=
ENST00000484879.1:n.397+75T=
ENST00000531171.5:n.266+75T=
NM_000321.2:c.2663+75T= , LRG_517t1:c.2663+75T= NP_000312.2:n.2663+75T=
XM_011535171.1:c.2402+75T= XP_011533473.1:n.2402+75T=
XM_011535171.2:c.2402+75T= XP_011533473.1:n.2402+75T=
NM_000321.3:c.2663+75T= MANE Select NP_000312.2:n.2663+75T=