Canonical Allele Identifier: CA2622981277
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2898791
ClinVar RCV Id: RCV003627273
dbSNP Id: rs1323914179
gnomAD v4: 13-48380043-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48380043T>A , CM000675.2:g.48380043T>A GRCh38
NC_000013.10:g.48954179T>A , CM000675.1:g.48954179T>A GRCh37
NC_000013.9:g.47852180T>A NCBI36
NG_009009.1:g.81297T>A , LRG_517:g.81297T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1390-10T>A MANE Select ENSP00000267163.4:n.1390-10T>A
ENST00000650461.1:c.1390-10T>A ENSP00000497193.1:n.1390-10T>A
ENST00000267163.4:c.1390-10T>A ENSP00000267163.4:n.1390-10T>A
NM_000321.2:c.1390-10T>A , LRG_517t1:c.1390-10T>A NP_000312.2:n.1390-10T>A
XM_011535171.1:c.1129-10T>A XP_011533473.1:n.1129-10T>A
XM_011535171.2:c.1129-10T>A XP_011533473.1:n.1129-10T>A
NM_000321.3:c.1390-10T>A MANE Select NP_000312.2:n.1390-10T>A
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