Canonical Allele Identifier: CA388250269

Gene: RB1

Linked Data

• ClinVar Variation Id: 2003697
• ClinVar RCV Id: RCV002811374
• gnomAD v4: 13-48303985-C-A
• MyVariant Identifiers: chr13:g.48878121C>A (hg19) ; chr13:g.48303985C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.48303985C>A , CM000675.2:g.48303985C>A	GRCh38
NC_000013.10:g.48878121C>A , CM000675.1:g.48878121C>A	GRCh37
NC_000013.9:g.47776122C>A	NCBI36
NG_009009.1:g.5239C>A , LRG_517:g.5239C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000267163.6:c.73C>A MANE Select	ENSP00000267163.4:p.Pro25Thr
ENST00000646097.1:c.73C>A	ENSP00000496556.1:p.Pro25Thr
ENST00000650461.1:c.73C>A	ENSP00000497193.1:p.Pro25Thr
ENST00000267163.4:c.73C>A	ENSP00000267163.4:p.Pro25Thr
ENST00000467505.5:c.73C>A	ENSP00000434702.1:p.Pro25Thr
ENST00000525036.1:n.235C>A
NM_000321.2:c.73C>A , LRG_517t1:c.73C>A	NP_000312.2:p.Pro25Thr
NM_000321.3:c.73C>A MANE Select	NP_000312.2:p.Pro25Thr