Canonical Allele Identifier: CA342043018

Gene: RPTN PUDPP2

Linked Data

• ClinVar Variation Id: 3156303
• ClinVar RCV Id: RCV004452181
• MyVariant Identifiers: chr1:g.152129122T>A (hg19) ; chr1:g.152156646T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152156646T>A , CM000663.2:g.152156646T>A	GRCh38
NC_000001.10:g.152129122T>A , CM000663.1:g.152129122T>A	GRCh37
NC_000001.9:g.150395746T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316073.3:c.453A>T (RPTN) MANE Select	ENSP00000317895.3:p.Arg151Ser
ENST00000628080.1:n.48-31941A>T (PUDPP2)
NM_001122965.1:c.453A>T (RPTN) MANE Select	NP_001116437.1:p.Arg151Ser