Canonical Allele Identifier: CA388163945
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 939948
ClinVar RCV Id: RCV001209434
dbSNP Id: rs1948534757
gnomAD v4: 13-48381405-T-A
MyVariant Identifiers: chr13:g.48955541T>A (hg19) chr13:g.48381405T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48381405T>A , CM000675.2:g.48381405T>A GRCh38
NC_000013.10:g.48955541T>A , CM000675.1:g.48955541T>A GRCh37
NC_000013.9:g.47853542T>A NCBI36
NG_009009.1:g.82659T>A , LRG_517:g.82659T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.1657T>A MANE Select ENSP00000267163.4:p.Cys553Ser
ENST00000643064.1:c.156T>A
ENST00000650461.1:c.1657T>A ENSP00000497193.1:p.Cys553Ser
ENST00000267163.4:c.1657T>A ENSP00000267163.4:p.Cys553Ser
NM_000321.2:c.1657T>A , LRG_517t1:c.1657T>A NP_000312.2:p.Cys553Ser
XM_011535171.1:c.1396T>A XP_011533473.1:p.Cys466Ser
XM_011535171.2:c.1396T>A XP_011533473.1:p.Cys466Ser
NM_000321.3:c.1657T>A MANE Select NP_000312.2:p.Cys553Ser
Search 100 bp 5'
Search 100 bp 3'