Canonical Allele Identifier: CA1668435

Gene: PNPT1

Linked Data

• dbSNP Id: rs757164768
• ExAC: 2:55907937 T / A
• gnomAD v2: 2-55907937-T-A
• gnomAD v3: 2-55680802-T-A
• gnomAD v4: 2-55680802-T-A
• MyVariant Identifiers: chr2:g.55907937T>A (hg19) ; chr2:g.55680802T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55680802T>A , CM000664.2:g.55680802T>A	GRCh38
NC_000002.11:g.55907937T>A , CM000664.1:g.55907937T>A	GRCh37
NC_000002.10:g.55761441T>A	NCBI36
NG_033012.1:g.18109A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000447944.7:c.518-43A>T MANE Select	ENSP00000400646.2:n.518-43A>T
ENST00000260604.8:c.*30A>T	ENSP00000260604.4:n.*30A>T
ENST00000415374.5:c.518-43A>T	ENSP00000393953.1:n.518-43A>T
ENST00000429805.1:c.*166-43A>T	ENSP00000411994.1:n.*166-43A>T
ENST00000447944.6:c.518-43A>T	ENSP00000400646.2:n.518-43A>T
NM_033109.4:c.518-43A>T	NP_149100.2:n.518-43A>T
XM_005264629.1:c.278-43A>T	XP_005264686.1:n.278-43A>T
XM_011533142.1:c.518-43A>T	XP_011531444.1:n.518-43A>T
XM_005264629.2:c.278-43A>T	XP_005264686.1:n.278-43A>T
XM_017005172.1:c.278-43A>T	XP_016860661.1:n.278-43A>T
XR_001739010.1:n.548-43A>T
NM_033109.5:c.518-43A>T MANE Select	NP_149100.2:n.518-43A>T