Canonical Allele Identifier: CA2090021139
Gene: RB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48476957A= , CM000675.2:g.48476957A= GRCh38
NC_000013.10:g.49051093A= , CM000675.1:g.49051093A= GRCh37
NC_000013.9:g.47949094A= NCBI36
NG_009009.1:g.178211A= , LRG_517:g.178211A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.2663+114A= MANE Select ENSP00000267163.4:n.2663+114A=
ENST00000643064.1:c.194+95514A=
ENST00000650461.1:c.2663+114A= ENSP00000497193.1:n.2663+114A=
ENST00000267163.4:c.2663+114A= ENSP00000267163.4:n.2663+114A=
ENST00000484879.1:n.397+114A=
ENST00000531171.5:n.266+114A=
NM_000321.2:c.2663+114A= , LRG_517t1:c.2663+114A= NP_000312.2:n.2663+114A=
XM_011535171.1:c.2402+114A= XP_011533473.1:n.2402+114A=
XM_011535171.2:c.2402+114A= XP_011533473.1:n.2402+114A=
NM_000321.3:c.2663+114A= MANE Select NP_000312.2:n.2663+114A=