Canonical Allele Identifier: CA388156923
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 571115
ClinVar RCV Id: RCV000692163 RCV001024341
dbSNP Id: rs1189153218
gnomAD v2: 13-48923114-G-A
gnomAD v4: 13-48348978-G-A
MyVariant Identifiers: chr13:g.48923114G>A (hg19) chr13:g.48348978G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48348978G>A , CM000675.2:g.48348978G>A GRCh38
NC_000013.10:g.48923114G>A , CM000675.1:g.48923114G>A GRCh37
NC_000013.9:g.47821115G>A NCBI36
NG_009009.1:g.50232G>A , LRG_517:g.50232G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.562G>A MANE Select ENSP00000267163.4:p.Ala188Thr
ENST00000650461.1:c.562G>A ENSP00000497193.1:p.Ala188Thr
ENST00000267163.4:c.562G>A ENSP00000267163.4:p.Ala188Thr
ENST00000467505.5:c.138-11039G>A ENSP00000434702.1:n.138-11039G>A
ENST00000525036.1:n.724G>A
NM_000321.2:c.562G>A , LRG_517t1:c.562G>A NP_000312.2:p.Ala188Thr
XM_011535171.1:c.301G>A XP_011533473.1:p.Ala101Thr
XM_011535171.2:c.301G>A XP_011533473.1:p.Ala101Thr
NM_000321.3:c.562G>A MANE Select NP_000312.2:p.Ala188Thr
Search 100 bp 5'
Search 100 bp 3'