Canonical Allele Identifier: CA388252518
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 458166
ClinVar RCV Id: RCV000551740 RCV002456070
dbSNP Id: rs1347755761
gnomAD v2: 13-48916826-A-C
gnomAD v3: 13-48342690-A-C
gnomAD v4: 13-48342690-A-C
MyVariant Identifiers: chr13:g.48916826A>C (hg19) chr13:g.48342690A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48342690A>C , CM000675.2:g.48342690A>C GRCh38
NC_000013.10:g.48916826A>C , CM000675.1:g.48916826A>C GRCh37
NC_000013.9:g.47814827A>C NCBI36
NG_009009.1:g.43944A>C , LRG_517:g.43944A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.356A>C MANE Select ENSP00000267163.4:p.Glu119Ala
ENST00000650461.1:c.356A>C ENSP00000497193.1:p.Glu119Ala
ENST00000267163.4:c.356A>C ENSP00000267163.4:p.Glu119Ala
ENST00000467505.5:c.138-17327A>C ENSP00000434702.1:n.138-17327A>C
ENST00000525036.1:n.518A>C
NM_000321.2:c.356A>C , LRG_517t1:c.356A>C NP_000312.2:p.Glu119Ala
XM_011535171.1:c.95A>C XP_011533473.1:p.Glu32Ala
XM_011535171.2:c.95A>C XP_011533473.1:p.Glu32Ala
NM_000321.3:c.356A>C MANE Select NP_000312.2:p.Glu119Ala
Search 100 bp 5'
Search 100 bp 3'