Canonical Allele Identifier: CA388250363

Gene: RB1

Linked Data

• ClinVar Variation Id: 527911
• ClinVar RCV Id: RCV000632939 ; RCV001010099
• dbSNP Id: rs1180053508
• gnomAD v3: 13-48304028-C-T
• gnomAD v4: 13-48304028-C-T
• MyVariant Identifiers: chr13:g.48878164C>T (hg19) ; chr13:g.48304028C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48304028C>T , CM000675.2:g.48304028C>T	GRCh38
NC_000013.10:g.48878164C>T , CM000675.1:g.48878164C>T	GRCh37
NC_000013.9:g.47776165C>T	NCBI36
NG_009009.1:g.5282C>T , LRG_517:g.5282C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.116C>T MANE Select	ENSP00000267163.4:p.Pro39Leu
ENST00000646097.1:c.116C>T	ENSP00000496556.1:p.Pro39Leu
ENST00000650461.1:c.116C>T	ENSP00000497193.1:p.Pro39Leu
ENST00000267163.4:c.116C>T	ENSP00000267163.4:p.Pro39Leu
ENST00000467505.5:c.116C>T	ENSP00000434702.1:p.Pro39Leu
ENST00000525036.1:n.278C>T
NM_000321.2:c.116C>T , LRG_517t1:c.116C>T	NP_000312.2:p.Pro39Leu
NM_000321.3:c.116C>T MANE Select	NP_000312.2:p.Pro39Leu