Canonical Allele Identifier: CA388157279
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 821497
ClinVar RCV Id: RCV001015974 RCV001225078
dbSNP Id: rs1566240957
gnomAD v3: 13-48476748-C-A
gnomAD v4: 13-48476748-C-A
MyVariant Identifiers: chr13:g.49050884C>A (hg19) chr13:g.48476748C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48476748C>A , CM000675.2:g.48476748C>A GRCh38
NC_000013.10:g.49050884C>A , CM000675.1:g.49050884C>A GRCh37
NC_000013.9:g.47948885C>A NCBI36
NG_009009.1:g.178002C>A , LRG_517:g.178002C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.2568C>A MANE Select ENSP00000267163.4:p.Asp856Glu
ENST00000643064.1:c.194+95305C>A
ENST00000650461.1:c.2568C>A ENSP00000497193.1:p.Asp856Glu
ENST00000267163.4:c.2568C>A ENSP00000267163.4:p.Asp856Glu
ENST00000484879.1:n.302C>A
ENST00000531171.5:n.171C>A
NM_000321.2:c.2568C>A , LRG_517t1:c.2568C>A NP_000312.2:p.Asp856Glu
XM_011535171.1:c.2307C>A XP_011533473.1:p.Asp769Glu
XM_011535171.2:c.2307C>A XP_011533473.1:p.Asp769Glu
NM_000321.3:c.2568C>A MANE Select NP_000312.2:p.Asp856Glu
Search 100 bp 5'
Search 100 bp 3'