Canonical Allele Identifier: CA388252351
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 527906
ClinVar RCV Id: RCV000632934
dbSNP Id: rs1555282775

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48342617A>T , CM000675.2:g.48342617A>T GRCh38
NC_000013.10:g.48916753A>T , CM000675.1:g.48916753A>T GRCh37
NC_000013.9:g.47814754A>T NCBI36
NG_009009.1:g.43871A>T , LRG_517:g.43871A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.283A>T MANE Select ENSP00000267163.4:p.Lys95Ter
ENST00000650461.1:c.283A>T ENSP00000497193.1:p.Lys95Ter
ENST00000267163.4:c.283A>T ENSP00000267163.4:p.Lys95Ter
ENST00000467505.5:c.138-17400A>T ENSP00000434702.1:n.138-17400A>T
ENST00000525036.1:n.445A>T
NM_000321.2:c.283A>T , LRG_517t1:c.283A>T NP_000312.2:p.Lys95Ter
XM_011535171.1:c.22A>T XP_011533473.1:p.Lys8Ter
XM_011535171.2:c.22A>T XP_011533473.1:p.Lys8Ter
NM_000321.3:c.283A>T MANE Select NP_000312.2:p.Lys95Ter