Canonical Allele Identifier: CA2090021116
Gene: RB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48476893G= , CM000675.2:g.48476893G= GRCh38
NC_000013.10:g.49051029G= , CM000675.1:g.49051029G= GRCh37
NC_000013.9:g.47949030G= NCBI36
NG_009009.1:g.178147G= , LRG_517:g.178147G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.2663+50G= MANE Select ENSP00000267163.4:n.2663+50G=
ENST00000643064.1:c.194+95450G=
ENST00000650461.1:c.2663+50G= ENSP00000497193.1:n.2663+50G=
ENST00000267163.4:c.2663+50G= ENSP00000267163.4:n.2663+50G=
ENST00000484879.1:n.397+50G=
ENST00000531171.5:n.266+50G=
NM_000321.2:c.2663+50G= , LRG_517t1:c.2663+50G= NP_000312.2:n.2663+50G=
XM_011535171.1:c.2402+50G= XP_011533473.1:n.2402+50G=
XM_011535171.2:c.2402+50G= XP_011533473.1:n.2402+50G=
NM_000321.3:c.2663+50G= MANE Select NP_000312.2:n.2663+50G=