Canonical Allele Identifier: CA325362

Gene: PNPT1

Linked Data

• ClinVar Variation Id: 215003
• ClinVar RCV Id: RCV000200776 ; RCV001789227 ; RCV001789228
• dbSNP Id: rs35916020
• ExAC: 2:55863360 T / TA
• gnomAD v2: 2-55863360-T-TA
• gnomAD v3: 2-55636225-T-TA
• gnomAD v4: 2-55636225-T-TA
• COSMIC: COSN15668809 ; COSN20096718 ; COSN20096719 ; COSN20096720 ; COSN20096721 ; COSN20096722
• MyVariant Identifiers: chr2:g.55863361dupA (hg19) ; chr2:g.55863362_55863363insA (hg19) ; chr2:g.55863361_55863362insA (hg19) ; chr2:g.55863360_55863361insA (hg19) ; chr2:g.55636226dupA (hg38) ; chr2:g.55636227_55636228insA (hg38) ; chr2:g.55636226_55636227insA (hg38) ; chr2:g.55636225_55636226insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55636236dup , CM000664.2:g.55636236dup	GRCh38
NC_000002.11:g.55863371dup , CM000664.1:g.55863371dup	GRCh37
NC_000002.10:g.55716875dup	NCBI36
NG_033012.1:g.62685dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.*11dup MANE Select	ENSP00000400646.2:n.*11dup
ENST00000260604.8:c.*1905dup	ENSP00000260604.4:n.*1905dup
ENST00000415374.5:c.2363dup	ENSP00000393953.1:n.2363dup
ENST00000447944.6:c.*11dup	ENSP00000400646.2:n.*11dup
NM_033109.4:c.*11dup	NP_149100.2:n.*11dup
XM_005264629.1:c.*11dup	XP_005264686.1:n.*11dup
XM_005264629.2:c.*11dup	XP_005264686.1:n.*11dup
XM_017005172.1:c.*11dup	XP_016860661.1:n.*11dup
NM_033109.5:c.*11dup MANE Select	NP_149100.2:n.*11dup