Canonical Allele Identifier: CA388250360

Gene: RB1

Linked Data

• ClinVar Variation Id: 3231182
• ClinVar RCV Id: RCV004525253
• gnomAD v4: 13-48304027-C-T
• MyVariant Identifiers: chr13:g.48878163C>T (hg19) ; chr13:g.48304027C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48304027C>T , CM000675.2:g.48304027C>T	GRCh38
NC_000013.10:g.48878163C>T , CM000675.1:g.48878163C>T	GRCh37
NC_000013.9:g.47776164C>T	NCBI36
NG_009009.1:g.5281C>T , LRG_517:g.5281C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.115C>T MANE Select	ENSP00000267163.4:p.Pro39Ser
ENST00000646097.1:c.115C>T	ENSP00000496556.1:p.Pro39Ser
ENST00000650461.1:c.115C>T	ENSP00000497193.1:p.Pro39Ser
ENST00000267163.4:c.115C>T	ENSP00000267163.4:p.Pro39Ser
ENST00000467505.5:c.115C>T	ENSP00000434702.1:p.Pro39Ser
ENST00000525036.1:n.277C>T
NM_000321.2:c.115C>T , LRG_517t1:c.115C>T	NP_000312.2:p.Pro39Ser
NM_000321.3:c.115C>T MANE Select	NP_000312.2:p.Pro39Ser