Canonical Allele Identifier: CA388163512
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2994844
ClinVar RCV Id: RCV003858467
dbSNP Id: rs1174618849
gnomAD v2: 13-48955442-G-A
gnomAD v4: 13-48381306-G-A
MyVariant Identifiers: chr13:g.48955442G>A (hg19) chr13:g.48381306G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48381306G>A , CM000675.2:g.48381306G>A GRCh38
NC_000013.10:g.48955442G>A , CM000675.1:g.48955442G>A GRCh37
NC_000013.9:g.47853443G>A NCBI36
NG_009009.1:g.82560G>A , LRG_517:g.82560G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1558G>A MANE Select ENSP00000267163.4:p.Val520Met
ENST00000643064.1:c.57G>A
ENST00000650461.1:c.1558G>A ENSP00000497193.1:p.Val520Met
ENST00000267163.4:c.1558G>A ENSP00000267163.4:p.Val520Met
NM_000321.2:c.1558G>A , LRG_517t1:c.1558G>A NP_000312.2:p.Val520Met
XM_011535171.1:c.1297G>A XP_011533473.1:p.Val433Met
XM_011535171.2:c.1297G>A XP_011533473.1:p.Val433Met
NM_000321.3:c.1558G>A MANE Select NP_000312.2:p.Val520Met
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