Canonical Allele Identifier: CA1667768

Gene: PNPT1

Linked Data

• ClinVar Variation Id: 418558
• ClinVar RCV Id: RCV000487084 ; RCV000954879
• dbSNP Id: rs532500568
• ExAC: 2:55864738 G / GA
• gnomAD v2: 2-55864738-G-GA
• gnomAD v3: 2-55637603-G-GA
• gnomAD v4: 2-55637603-G-GA
• MyVariant Identifiers: chr2:g.55864739dupA (hg19) ; chr2:g.55864739_55864740insA (hg19) ; chr2:g.55864738_55864739insA (hg19) ; chr2:g.55637604dupA (hg38) ; chr2:g.55637604_55637605insA (hg38) ; chr2:g.55637603_55637604insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55637612dup , CM000664.2:g.55637612dup	GRCh38
NC_000002.11:g.55864747dup , CM000664.1:g.55864747dup	GRCh37
NC_000002.10:g.55718251dup	NCBI36
NG_033012.1:g.61307dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.2149-5dup MANE Select	ENSP00000400646.2:n.2149-5dup
ENST00000260604.8:c.*1691-5dup	ENSP00000260604.4:n.*1691-5dup
ENST00000415374.5:c.2149-5dup	ENSP00000393953.1:n.2149-5dup
ENST00000447944.6:c.2149-5dup	ENSP00000400646.2:n.2149-5dup
ENST00000481066.1:n.1211-5dup
NM_033109.4:c.2149-5dup	NP_149100.2:n.2149-5dup
XM_005264629.1:c.1909-5dup	XP_005264686.1:n.1909-5dup
XM_005264629.2:c.1909-5dup	XP_005264686.1:n.1909-5dup
XM_017005172.1:c.1909-5dup	XP_016860661.1:n.1909-5dup
NM_033109.5:c.2149-5dup MANE Select	NP_149100.2:n.2149-5dup