Canonical Allele Identifier: CA1668452

Gene: PNPT1

Linked Data

• dbSNP Id: rs756832407
• ExAC: 2:55908034 G / A
• gnomAD v2: 2-55908034-G-A
• gnomAD v4: 2-55680899-G-A
• MyVariant Identifiers: chr2:g.55908034G>A (hg19) ; chr2:g.55680899G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55680899G>A , CM000664.2:g.55680899G>A	GRCh38
NC_000002.11:g.55908034G>A , CM000664.1:g.55908034G>A	GRCh37
NC_000002.10:g.55761538G>A	NCBI36
NG_033012.1:g.18012C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000447944.7:c.473C>T MANE Select	ENSP00000400646.2:p.Ala158Val
ENST00000260604.8:c.473C>T	ENSP00000260604.4:p.Ala158Val
ENST00000415374.5:c.473C>T	ENSP00000393953.1:p.Ala158Val
ENST00000429805.1:c.*121C>T	ENSP00000411994.1:n.*121C>T
ENST00000447944.6:c.473C>T	ENSP00000400646.2:p.Ala158Val
NM_033109.4:c.473C>T	NP_149100.2:p.Ala158Val
XM_005264629.1:c.233C>T	XP_005264686.1:p.Ala78Val
XM_011533142.1:c.473C>T	XP_011531444.1:p.Ala158Val
XM_005264629.2:c.233C>T	XP_005264686.1:p.Ala78Val
XM_017005172.1:c.233C>T	XP_016860661.1:p.Ala78Val
XR_001739010.1:n.503C>T
NM_033109.5:c.473C>T MANE Select	NP_149100.2:p.Ala158Val