Canonical Allele Identifier: CA1668430

Gene: PNPT1

Linked Data

• ClinVar Variation Id: 2019939
• ClinVar RCV Id: RCV002852194
• dbSNP Id: rs752898095
• ExAC: 2:55907897 T / TA
• gnomAD v2: 2-55907897-T-TA
• gnomAD v4: 2-55680762-T-TA
• MyVariant Identifiers: chr2:g.55907897_55907898insA (hg19) ; chr2:g.55680762_55680763insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55680768dup , CM000664.2:g.55680768dup	GRCh38
NC_000002.11:g.55907903dup , CM000664.1:g.55907903dup	GRCh37
NC_000002.10:g.55761407dup	NCBI36
NG_033012.1:g.18148dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000447944.7:c.518-4dup MANE Select	ENSP00000400646.2:n.518-4dup
ENST00000260604.8:c.*69dup	ENSP00000260604.4:n.*69dup
ENST00000415374.5:c.518-4dup	ENSP00000393953.1:n.518-4dup
ENST00000429805.1:c.*166-4dup	ENSP00000411994.1:n.*166-4dup
ENST00000447944.6:c.518-4dup	ENSP00000400646.2:n.518-4dup
NM_033109.4:c.518-4dup	NP_149100.2:n.518-4dup
XM_005264629.1:c.278-4dup	XP_005264686.1:n.278-4dup
XM_011533142.1:c.518-4dup	XP_011531444.1:n.518-4dup
XM_005264629.2:c.278-4dup	XP_005264686.1:n.278-4dup
XM_017005172.1:c.278-4dup	XP_016860661.1:n.278-4dup
XR_001739010.1:n.548-4dup
NM_033109.5:c.518-4dup MANE Select	NP_149100.2:n.518-4dup