Canonical Allele Identifier: CA2622977144
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2983616
ClinVar RCV Id: RCV003840711
gnomAD v4: 13-48303788-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48303788A>T , CM000675.2:g.48303788A>T GRCh38
NC_000013.10:g.48877924A>T , CM000675.1:g.48877924A>T GRCh37
NC_000013.9:g.47775925A>T NCBI36
NG_009009.1:g.5042A>T , LRG_517:g.5042A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.-125A>T MANE Select ENSP00000267163.4:n.-125A>T
ENST00000646097.1:c.-125A>T ENSP00000496556.1:n.-125A>T
ENST00000650461.1:c.-125A>T ENSP00000497193.1:n.-125A>T
ENST00000267163.4:c.-125A>T ENSP00000267163.4:n.-125A>T
ENST00000467505.5:c.-125A>T ENSP00000434702.1:n.-125A>T
ENST00000525036.1:n.38A>T
NM_000321.2:c.-125A>T , LRG_517t1:c.-125A>T NP_000312.2:n.-125A>T
NM_000321.3:c.-125A>T MANE Select NP_000312.2:n.-125A>T
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