Canonical Allele Identifier: CA1668214

Gene: PNPT1

Linked Data

• dbSNP Id: rs751635419
• ExAC: 2:55894130 G / A
• gnomAD v2: 2-55894130-G-A
• gnomAD v4: 2-55666995-G-A
• MyVariant Identifiers: chr2:g.55894130G>A (hg19) ; chr2:g.55666995G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55666995G>A , CM000664.2:g.55666995G>A	GRCh38
NC_000002.11:g.55894130G>A , CM000664.1:g.55894130G>A	GRCh37
NC_000002.10:g.55747634G>A	NCBI36
NG_033012.1:g.31916C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.1172C>T MANE Select	ENSP00000400646.2:p.Thr391Ile
ENST00000260604.8:c.*727C>T	ENSP00000260604.4:n.*727C>T
ENST00000415374.5:c.1172C>T	ENSP00000393953.1:p.Thr391Ile
ENST00000415489.1:c.246C>T
ENST00000447944.6:c.1172C>T	ENSP00000400646.2:p.Thr391Ile
NM_033109.4:c.1172C>T	NP_149100.2:p.Thr391Ile
XM_005264629.1:c.932C>T	XP_005264686.1:p.Thr311Ile
XM_011533142.1:c.1172C>T	XP_011531444.1:p.Thr391Ile
XM_005264629.2:c.932C>T	XP_005264686.1:p.Thr311Ile
XM_017005172.1:c.932C>T	XP_016860661.1:p.Thr311Ile
XR_001739010.1:n.1202C>T
NM_033109.5:c.1172C>T MANE Select	NP_149100.2:p.Thr391Ile