Canonical Allele Identifier: CA388163580
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 428687
ClinVar RCV Id: RCV000492469
dbSNP Id: rs4151539
gnomAD v4: 13-48381322-C-A
MyVariant Identifiers: chr13:g.48955458C>A (hg19) chr13:g.48381322C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48381322C>A , CM000675.2:g.48381322C>A GRCh38
NC_000013.10:g.48955458C>A , CM000675.1:g.48955458C>A GRCh37
NC_000013.9:g.47853459C>A NCBI36
NG_009009.1:g.82576C>A , LRG_517:g.82576C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1574C>A MANE Select ENSP00000267163.4:p.Ala525Asp
ENST00000643064.1:c.73C>A
ENST00000650461.1:c.1574C>A ENSP00000497193.1:p.Ala525Asp
ENST00000267163.4:c.1574C>A ENSP00000267163.4:p.Ala525Asp
NM_000321.2:c.1574C>A , LRG_517t1:c.1574C>A NP_000312.2:p.Ala525Asp
XM_011535171.1:c.1313C>A XP_011533473.1:p.Ala438Asp
XM_011535171.2:c.1313C>A XP_011533473.1:p.Ala438Asp
NM_000321.3:c.1574C>A MANE Select NP_000312.2:p.Ala525Asp
Search 100 bp 5'
Search 100 bp 3'