Canonical Allele Identifier: CA388161210
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1429464
ClinVar RCV Id: RCV001967254
dbSNP Id: rs1566194740
gnomAD v2: 13-48942698-T-C
gnomAD v3: 13-48368562-T-C
gnomAD v4: 13-48368562-T-C
MyVariant Identifiers: chr13:g.48942698T>C (hg19) chr13:g.48942698_48942701delinsCTGA (hg19) chr13:g.48368562T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48368562T>C , CM000675.2:g.48368562T>C GRCh38
NC_000013.10:g.48942698T>C , CM000675.1:g.48942698T>C GRCh37
NC_000013.9:g.47840699T>C NCBI36
NG_009009.1:g.69816T>C , LRG_517:g.69816T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1085T>C MANE Select ENSP00000267163.4:p.Leu362Pro
ENST00000650461.1:c.1085T>C ENSP00000497193.1:p.Leu362Pro
ENST00000267163.4:c.1085T>C ENSP00000267163.4:p.Leu362Pro
NM_000321.2:c.1085T>C , LRG_517t1:c.1085T>C NP_000312.2:p.Leu362Pro
XM_011535171.1:c.824T>C XP_011533473.1:p.Leu275Pro
XM_011535171.2:c.824T>C XP_011533473.1:p.Leu275Pro
XR_002957522.1:n.122-3586A>G
NM_000321.3:c.1085T>C MANE Select NP_000312.2:p.Leu362Pro
Search 100 bp 5'
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