Canonical Allele Identifier: CA2090019639
Gene: RB1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48459716T= , CM000675.2:g.48459716T= GRCh38
NC_000013.10:g.49033852T= , CM000675.1:g.49033852T= GRCh37
NC_000013.9:g.47931853T= NCBI36
NG_009009.1:g.160970T= , LRG_517:g.160970T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1989T= MANE Select ENSP00000267163.4:p.Asn663=
ENST00000643064.1:c.194+78273T=
ENST00000650461.1:c.1989T= ENSP00000497193.1:p.Asn663=
ENST00000267163.4:c.1989T= ENSP00000267163.4:p.Asn663=
NM_000321.2:c.1989T= , LRG_517t1:c.1989T= NP_000312.2:p.Asn663=
XM_011535171.1:c.1728T= XP_011533473.1:p.Asn576=
XM_011535171.2:c.1728T= XP_011533473.1:p.Asn576=
NM_000321.3:c.1989T= MANE Select NP_000312.2:p.Asn663=