Canonical Allele Identifier: CA388166797
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 883471
ClinVar RCV Id: RCV001113911
dbSNP Id: rs1060503067
gnomAD v3: 13-48459756-G-A
gnomAD v4: 13-48459756-G-A
MyVariant Identifiers: chr13:g.49033892G>A (hg19) chr13:g.48459756G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48459756G>A , CM000675.2:g.48459756G>A GRCh38
NC_000013.10:g.49033892G>A , CM000675.1:g.49033892G>A GRCh37
NC_000013.9:g.47931893G>A NCBI36
NG_009009.1:g.161010G>A , LRG_517:g.161010G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.2029G>A MANE Select ENSP00000267163.4:p.Glu677Lys
ENST00000643064.1:c.194+78313G>A
ENST00000650461.1:c.2029G>A ENSP00000497193.1:p.Glu677Lys
ENST00000267163.4:c.2029G>A ENSP00000267163.4:p.Glu677Lys
NM_000321.2:c.2029G>A , LRG_517t1:c.2029G>A NP_000312.2:p.Glu677Lys
XM_011535171.1:c.1768G>A XP_011533473.1:p.Glu590Lys
XM_011535171.2:c.1768G>A XP_011533473.1:p.Glu590Lys
NM_000321.3:c.2029G>A MANE Select NP_000312.2:p.Glu677Lys
Search 100 bp 5'
Search 100 bp 3'