Canonical Allele Identifier: CA1668431

Gene: PNPT1

Linked Data

• dbSNP Id: rs374120183
• ExAC: 2:55907921 G / A
• gnomAD v2: 2-55907921-G-A
• gnomAD v3: 2-55680786-G-A
• gnomAD v4: 2-55680786-G-A
• COSMIC: COSN6186972
• MyVariant Identifiers: chr2:g.55907921G>A (hg19) ; chr2:g.55680786G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55680786G>A , CM000664.2:g.55680786G>A	GRCh38
NC_000002.11:g.55907921G>A , CM000664.1:g.55907921G>A	GRCh37
NC_000002.10:g.55761425G>A	NCBI36
NG_033012.1:g.18125C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000447944.7:c.518-27C>T MANE Select	ENSP00000400646.2:n.518-27C>T
ENST00000260604.8:c.*46C>T	ENSP00000260604.4:n.*46C>T
ENST00000415374.5:c.518-27C>T	ENSP00000393953.1:n.518-27C>T
ENST00000429805.1:c.*166-27C>T	ENSP00000411994.1:n.*166-27C>T
ENST00000447944.6:c.518-27C>T	ENSP00000400646.2:n.518-27C>T
NM_033109.4:c.518-27C>T	NP_149100.2:n.518-27C>T
XM_005264629.1:c.278-27C>T	XP_005264686.1:n.278-27C>T
XM_011533142.1:c.518-27C>T	XP_011531444.1:n.518-27C>T
XM_005264629.2:c.278-27C>T	XP_005264686.1:n.278-27C>T
XM_017005172.1:c.278-27C>T	XP_016860661.1:n.278-27C>T
XR_001739010.1:n.548-27C>T
NM_033109.5:c.518-27C>T MANE Select	NP_149100.2:n.518-27C>T