Canonical Allele Identifier: CA388162858
Gene: RB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1014111
ClinVar RCV Id: RCV001312801 RCV003294256
dbSNP Id: rs1948523129
MyVariant Identifiers: chr13:g.48954344T>G (hg19) chr13:g.48380208T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48380208T>G , CM000675.2:g.48380208T>G GRCh38
NC_000013.10:g.48954344T>G , CM000675.1:g.48954344T>G GRCh37
NC_000013.9:g.47852345T>G NCBI36
NG_009009.1:g.81462T>G , LRG_517:g.81462T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000267163.6:c.1465T>G MANE Select ENSP00000267163.4:p.Cys489Gly
ENST00000650461.1:c.1465T>G ENSP00000497193.1:p.Cys489Gly
ENST00000267163.4:c.1465T>G ENSP00000267163.4:p.Cys489Gly
NM_000321.2:c.1465T>G , LRG_517t1:c.1465T>G NP_000312.2:p.Cys489Gly
XM_011535171.1:c.1204T>G XP_011533473.1:p.Cys402Gly
XM_011535171.2:c.1204T>G XP_011533473.1:p.Cys402Gly
NM_000321.3:c.1465T>G MANE Select NP_000312.2:p.Cys489Gly
Search 100 bp 5'
Search 100 bp 3'