Canonical Allele Identifier: CA2090013909
Gene: RB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48452850T= , CM000675.2:g.48452850T= GRCh38
NC_000013.10:g.49026986T= , CM000675.1:g.49026986T= GRCh37
NC_000013.9:g.47924987T= NCBI36
NG_009009.1:g.154104T= , LRG_517:g.154104T=

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.1696-143T= MANE Select ENSP00000267163.4:n.1696-143T=
ENST00000643064.1:c.194+71407T=
ENST00000650461.1:c.1696-143T= ENSP00000497193.1:n.1696-143T=
ENST00000267163.4:c.1696-143T= ENSP00000267163.4:n.1696-143T=
ENST00000480491.1:n.395-143T=
NM_000321.2:c.1696-143T= , LRG_517t1:c.1696-143T= NP_000312.2:n.1696-143T=
XM_011535171.1:c.1435-143T= XP_011533473.1:n.1435-143T=
XM_011535171.2:c.1435-143T= XP_011533473.1:n.1435-143T=
NM_000321.3:c.1696-143T= MANE Select NP_000312.2:n.1696-143T=