Canonical Allele Identifier: CA036655
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 458155
ClinVar RCV Id: RCV000559975 RCV002456068
dbSNP Id: rs752897010
ExAC: 13:49050969 G / A
gnomAD v2: 13-49050969-G-A
gnomAD v4: 13-48476833-G-A
MyVariant Identifiers: chr13:g.49050969G>A (hg19) chr13:g.48476833G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48476833G>A , CM000675.2:g.48476833G>A GRCh38
NC_000013.10:g.49050969G>A , CM000675.1:g.49050969G>A GRCh37
NC_000013.9:g.47948970G>A NCBI36
NG_009009.1:g.178087G>A , LRG_517:g.178087G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.2653G>A MANE Select ENSP00000267163.4:p.Ala885Thr
ENST00000643064.1:c.194+95390G>A
ENST00000650461.1:c.2653G>A ENSP00000497193.1:p.Ala885Thr
ENST00000267163.4:c.2653G>A ENSP00000267163.4:p.Ala885Thr
ENST00000484879.1:n.387G>A
ENST00000531171.5:n.256G>A
NM_000321.2:c.2653G>A , LRG_517t1:c.2653G>A NP_000312.2:p.Ala885Thr
XM_011535171.1:c.2392G>A XP_011533473.1:p.Ala798Thr
XM_011535171.2:c.2392G>A XP_011533473.1:p.Ala798Thr
NM_000321.3:c.2653G>A MANE Select NP_000312.2:p.Ala885Thr
Search 100 bp 5'
Search 100 bp 3'