Canonical Allele Identifier: CA1099614

Gene: RPTN PUDPP2

Linked Data

• ClinVar Variation Id: 3156309
• ClinVar RCV Id: RCV004452187
• dbSNP Id: rs527782408
• ExAC: 1:152128610 G / A
• gnomAD v2: 1-152128610-G-A
• gnomAD v3: 1-152156134-G-A
• gnomAD v4: 1-152156134-G-A
• COSMIC: COSM6331685
• MyVariant Identifiers: chr1:g.152128610G>A (hg19) ; chr1:g.152156134G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152156134G>A , CM000663.2:g.152156134G>A	GRCh38
NC_000001.10:g.152128610G>A , CM000663.1:g.152128610G>A	GRCh37
NC_000001.9:g.150395234G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000316073.3:c.965C>T (RPTN) MANE Select	ENSP00000317895.3:p.Thr322Met
ENST00000628080.1:n.48-31429C>T (PUDPP2)
NM_001122965.1:c.965C>T (RPTN) MANE Select	NP_001116437.1:p.Thr322Met