Canonical Allele Identifier: CA028544
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 512243
ClinVar RCV Id: RCV000602639
dbSNP Id: rs781419356
ExAC: 13:48954173 A / T
gnomAD v2: 13-48954173-A-T
gnomAD v3: 13-48380037-A-T
gnomAD v4: 13-48380037-A-T
MyVariant Identifiers: chr13:g.48954173A>T (hg19) chr13:g.48380037A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48380037A>T , CM000675.2:g.48380037A>T GRCh38
NC_000013.10:g.48954173A>T , CM000675.1:g.48954173A>T GRCh37
NC_000013.9:g.47852174A>T NCBI36
NG_009009.1:g.81291A>T , LRG_517:g.81291A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.1390-16A>T MANE Select ENSP00000267163.4:n.1390-16A>T
ENST00000650461.1:c.1390-16A>T ENSP00000497193.1:n.1390-16A>T
ENST00000267163.4:c.1390-16A>T ENSP00000267163.4:n.1390-16A>T
NM_000321.2:c.1390-16A>T , LRG_517t1:c.1390-16A>T NP_000312.2:n.1390-16A>T
XM_011535171.1:c.1129-16A>T XP_011533473.1:n.1129-16A>T
XM_011535171.2:c.1129-16A>T XP_011533473.1:n.1129-16A>T
NM_000321.3:c.1390-16A>T MANE Select NP_000312.2:n.1390-16A>T
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