Canonical Allele Identifier: CA388162901
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1773678
ClinVar RCV Id: RCV002389595
gnomAD v4: 13-48380229-G-C
MyVariant Identifiers: chr13:g.48954365G>C (hg19) chr13:g.48380229G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48380229G>C , CM000675.2:g.48380229G>C GRCh38
NC_000013.10:g.48954365G>C , CM000675.1:g.48954365G>C GRCh37
NC_000013.9:g.47852366G>C NCBI36
NG_009009.1:g.81483G>C , LRG_517:g.81483G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.1486G>C MANE Select ENSP00000267163.4:p.Ala496Pro
ENST00000650461.1:c.1486G>C ENSP00000497193.1:p.Ala496Pro
ENST00000267163.4:c.1486G>C ENSP00000267163.4:p.Ala496Pro
NM_000321.2:c.1486G>C , LRG_517t1:c.1486G>C NP_000312.2:p.Ala496Pro
XM_011535171.1:c.1225G>C XP_011533473.1:p.Ala409Pro
XM_011535171.2:c.1225G>C XP_011533473.1:p.Ala409Pro
NM_000321.3:c.1486G>C MANE Select NP_000312.2:p.Ala496Pro
Search 100 bp 5'
Search 100 bp 3'