Canonical Allele Identifier: CA388162907
Gene: RB1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr13:g.48954369C>A (hg19) chr13:g.48380233C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.48380233C>A , CM000675.2:g.48380233C>A GRCh38
NC_000013.10:g.48954369C>A , CM000675.1:g.48954369C>A GRCh37
NC_000013.9:g.47852370C>A NCBI36
NG_009009.1:g.81487C>A , LRG_517:g.81487C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000267163.6:c.1490C>A MANE Select ENSP00000267163.4:p.Thr497Lys
ENST00000650461.1:c.1490C>A ENSP00000497193.1:p.Thr497Lys
ENST00000267163.4:c.1490C>A ENSP00000267163.4:p.Thr497Lys
NM_000321.2:c.1490C>A , LRG_517t1:c.1490C>A NP_000312.2:p.Thr497Lys
XM_011535171.1:c.1229C>A XP_011533473.1:p.Thr410Lys
XM_011535171.2:c.1229C>A XP_011533473.1:p.Thr410Lys
NM_000321.3:c.1490C>A MANE Select NP_000312.2:p.Thr497Lys
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