Canonical Allele Identifier: CA2090019353
Gene: RB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48459499C= , CM000675.2:g.48459499C= GRCh38
NC_000013.10:g.49033635C= , CM000675.1:g.49033635C= GRCh37
NC_000013.9:g.47931636C= NCBI36
NG_009009.1:g.160753C= , LRG_517:g.160753C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1961-189C= MANE Select ENSP00000267163.4:n.1961-189C=
ENST00000643064.1:c.194+78056C=
ENST00000650461.1:c.1961-189C= ENSP00000497193.1:n.1961-189C=
ENST00000267163.4:c.1961-189C= ENSP00000267163.4:n.1961-189C=
NM_000321.2:c.1961-189C= , LRG_517t1:c.1961-189C= NP_000312.2:n.1961-189C=
XM_011535171.1:c.1700-189C= XP_011533473.1:n.1700-189C=
XM_011535171.2:c.1700-189C= XP_011533473.1:n.1700-189C=
NM_000321.3:c.1961-189C= MANE Select NP_000312.2:n.1961-189C=