Canonical Allele Identifier: CA026418
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 100809
ClinVar RCV Id: RCV000087167 RCV001854506
dbSNP Id: rs483352689
COSMIC: COSM326321 COSM5027771
MyVariant Identifiers: chr13:g.49033857T>G (hg19) chr13:g.48459721T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48459721T>G , CM000675.2:g.48459721T>G GRCh38
NC_000013.10:g.49033857T>G , CM000675.1:g.49033857T>G GRCh37
NC_000013.9:g.47931858T>G NCBI36
NG_009009.1:g.160975T>G , LRG_517:g.160975T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1994T>G MANE Select ENSP00000267163.4:p.Leu665Arg
ENST00000643064.1:c.194+78278T>G
ENST00000650461.1:c.1994T>G ENSP00000497193.1:p.Leu665Arg
ENST00000267163.4:c.1994T>G ENSP00000267163.4:p.Leu665Arg
NM_000321.2:c.1994T>G , LRG_517t1:c.1994T>G NP_000312.2:p.Leu665Arg
XM_011535171.1:c.1733T>G XP_011533473.1:p.Leu578Arg
XM_011535171.2:c.1733T>G XP_011533473.1:p.Leu578Arg
NM_000321.3:c.1994T>G MANE Select NP_000312.2:p.Leu665Arg
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