Canonical Allele Identifier: CA036169
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 416490
ClinVar RCV Id: RCV000467622 RCV000492588 RCV000761059 RCV001555707 RCV001821379 RCV003925378
dbSNP Id: rs149359120
ExAC: 13:49050882 G / A
gnomAD v2: 13-49050882-G-A
gnomAD v3: 13-48476746-G-A
gnomAD v4: 13-48476746-G-A
MyVariant Identifiers: chr13:g.49050882G>A (hg19) chr13:g.48476746G>A (hg38)
PubMed: PMID:22180099 PMID:23532519
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48476746G>A , CM000675.2:g.48476746G>A GRCh38
NC_000013.10:g.49050882G>A , CM000675.1:g.49050882G>A GRCh37
NC_000013.9:g.47948883G>A NCBI36
NG_009009.1:g.178000G>A , LRG_517:g.178000G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.2566G>A MANE Select ENSP00000267163.4:p.Asp856Asn
ENST00000643064.1:c.194+95303G>A
ENST00000650461.1:c.2566G>A ENSP00000497193.1:p.Asp856Asn
ENST00000267163.4:c.2566G>A ENSP00000267163.4:p.Asp856Asn
ENST00000484879.1:n.300G>A
ENST00000531171.5:n.169G>A
NM_000321.2:c.2566G>A , LRG_517t1:c.2566G>A NP_000312.2:p.Asp856Asn
XM_011535171.1:c.2305G>A XP_011533473.1:p.Asp769Asn
XM_011535171.2:c.2305G>A XP_011533473.1:p.Asp769Asn
NM_000321.3:c.2566G>A MANE Select NP_000312.2:p.Asp856Asn
Search 100 bp 5'
Search 100 bp 3'