Canonical Allele Identifier: CA10583160
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 237668
ClinVar RCV Id: RCV000234228 RCV000492351
dbSNP Id: rs878853949
COSMIC: COSM13117
MyVariant Identifiers: chr13:g.49033916C>T (hg19) chr13:g.48459780C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48459780C>T , CM000675.2:g.48459780C>T GRCh38
NC_000013.10:g.49033916C>T , CM000675.1:g.49033916C>T GRCh37
NC_000013.9:g.47931917C>T NCBI36
NG_009009.1:g.161034C>T , LRG_517:g.161034C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.2053C>T MANE Select ENSP00000267163.4:p.Gln685Ter
ENST00000643064.1:c.194+78337C>T
ENST00000650461.1:c.2053C>T ENSP00000497193.1:p.Gln685Ter
ENST00000267163.4:c.2053C>T ENSP00000267163.4:p.Gln685Ter
NM_000321.2:c.2053C>T , LRG_517t1:c.2053C>T NP_000312.2:p.Gln685Ter
XM_011535171.1:c.1792C>T XP_011533473.1:p.Gln598Ter
XM_011535171.2:c.1792C>T XP_011533473.1:p.Gln598Ter
NM_000321.3:c.2053C>T MANE Select NP_000312.2:p.Gln685Ter
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Search 100 bp 3'