Canonical Allele Identifier: CA2090008236
Gene: RB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48459841A= , CM000675.2:g.48459841A= GRCh38
NC_000013.10:g.49033977A= , CM000675.1:g.49033977A= GRCh37
NC_000013.9:g.47931978A= NCBI36
NG_009009.1:g.161095A= , LRG_517:g.161095A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.2106+8A= MANE Select ENSP00000267163.4:n.2106+8A=
ENST00000643064.1:c.194+78398A=
ENST00000650461.1:c.2106+8A= ENSP00000497193.1:n.2106+8A=
ENST00000267163.4:c.2106+8A= ENSP00000267163.4:n.2106+8A=
NM_000321.2:c.2106+8A= , LRG_517t1:c.2106+8A= NP_000312.2:n.2106+8A=
XM_011535171.1:c.1845+8A= XP_011533473.1:n.1845+8A=
XM_011535171.2:c.1845+8A= XP_011533473.1:n.1845+8A=
NM_000321.3:c.2106+8A= MANE Select NP_000312.2:n.2106+8A=