Canonical Allele Identifier: CA16614427
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 416488
ClinVar RCV Id: RCV000474294 RCV002323808
dbSNP Id: rs530961288
gnomAD v4: 13-48303942-C-T
MyVariant Identifiers: chr13:g.48878078C>T (hg19) chr13:g.48303942C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303942C>T , CM000675.2:g.48303942C>T GRCh38
NC_000013.10:g.48878078C>T , CM000675.1:g.48878078C>T GRCh37
NC_000013.9:g.47776079C>T NCBI36
NG_009009.1:g.5196C>T , LRG_517:g.5196C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.30C>T MANE Select ENSP00000267163.4:p.Ala10=
ENST00000646097.1:c.30C>T ENSP00000496556.1:p.Ala10=
ENST00000650461.1:c.30C>T ENSP00000497193.1:p.Ala10=
ENST00000267163.4:c.30C>T ENSP00000267163.4:p.Ala10=
ENST00000467505.5:c.30C>T ENSP00000434702.1:p.Ala10=
ENST00000525036.1:n.192C>T
NM_000321.2:c.30C>T , LRG_517t1:c.30C>T NP_000312.2:p.Ala10=
NM_000321.3:c.30C>T MANE Select NP_000312.2:p.Ala10=
Search 100 bp 5'
Search 100 bp 3'