Canonical Allele Identifier: CA250389

Gene: PNPT1

Linked Data

• ClinVar Variation Id: 209185
• ClinVar RCV Id: RCV000196452 ; RCV000191121 ; RCV000845061 ; RCV000766604 ; RCV003152596 ; RCV002514095
• dbSNP Id: rs146571352
• ExAC: 2:55874559 C / T
• gnomAD v2: 2-55874559-C-T
• gnomAD v3: 2-55647424-C-T
• gnomAD v4: 2-55647424-C-T
• MyVariant Identifiers: chr2:g.55874559C>T (hg19) ; chr2:g.55647424C>T (hg38)
• PubMed: PMID:24088041 ; PMID:26633545

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55647424C>T , CM000664.2:g.55647424C>T	GRCh38
NC_000002.11:g.55874559C>T , CM000664.1:g.55874559C>T	GRCh37
NC_000002.10:g.55728063C>T	NCBI36
NG_033012.1:g.51487G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.1525G>A MANE Select	ENSP00000400646.2:p.Val509Ile
ENST00000260604.8:c.*1080G>A	ENSP00000260604.4:n.*1080G>A
ENST00000415374.5:c.1525G>A	ENSP00000393953.1:p.Val509Ile
ENST00000415489.1:c.532G>A
ENST00000447944.6:c.1525G>A	ENSP00000400646.2:p.Val509Ile
NM_033109.4:c.1525G>A	NP_149100.2:p.Val509Ile
XM_005264629.1:c.1285G>A	XP_005264686.1:p.Val429Ile
XM_011533142.1:c.*57G>A	XP_011531444.1:n.*57G>A
XM_005264629.2:c.1285G>A	XP_005264686.1:p.Val429Ile
XM_017005172.1:c.1285G>A	XP_016860661.1:p.Val429Ile
XR_001739010.1:n.1602G>A
NM_033109.5:c.1525G>A MANE Select	NP_149100.2:p.Val509Ile