Canonical Allele Identifier: CA426173466

Gene: PNPT1

Linked Data

• MyVariant Identifiers: chr2:g.55894129T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55666994T>A , CM000664.2:g.55666994T>A	GRCh38
NC_000002.11:g.55894129T>A , CM000664.1:g.55894129T>A	GRCh37
NC_000002.10:g.55747633T>A	NCBI36
NG_033012.1:g.31917A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.1173A>T MANE Select	ENSP00000400646.2:p.Thr391=
ENST00000260604.8:c.*728A>T	ENSP00000260604.4:n.*728A>T
ENST00000415374.5:c.1173A>T	ENSP00000393953.1:p.Thr391=
ENST00000415489.1:c.247A>T
ENST00000447944.6:c.1173A>T	ENSP00000400646.2:p.Thr391=
NM_033109.4:c.1173A>T	NP_149100.2:p.Thr391=
XM_005264629.1:c.933A>T	XP_005264686.1:p.Thr311=
XM_011533142.1:c.1173A>T	XP_011531444.1:p.Thr391=
XM_005264629.2:c.933A>T	XP_005264686.1:p.Thr311=
XM_017005172.1:c.933A>T	XP_016860661.1:p.Thr311=
XR_001739010.1:n.1203A>T
NM_033109.5:c.1173A>T MANE Select	NP_149100.2:p.Thr391=