Canonical Allele Identifier: CA426171927

Gene: PNPT1

Linked Data

• MyVariant Identifiers: chr2:g.55874578A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.55647443A>T , CM000664.2:g.55647443A>T	GRCh38
NC_000002.11:g.55874578A>T , CM000664.1:g.55874578A>T	GRCh37
NC_000002.10:g.55728082A>T	NCBI36
NG_033012.1:g.51468T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000447944.7:c.1506T>A MANE Select	ENSP00000400646.2:p.Ile502=
ENST00000260604.8:c.*1061T>A	ENSP00000260604.4:n.*1061T>A
ENST00000415374.5:c.1506T>A	ENSP00000393953.1:p.Ile502=
ENST00000415489.1:c.513T>A
ENST00000447944.6:c.1506T>A	ENSP00000400646.2:p.Ile502=
NM_033109.4:c.1506T>A	NP_149100.2:p.Ile502=
XM_005264629.1:c.1266T>A	XP_005264686.1:p.Ile422=
XM_011533142.1:c.*38T>A	XP_011531444.1:n.*38T>A
XM_005264629.2:c.1266T>A	XP_005264686.1:p.Ile422=
XM_017005172.1:c.1266T>A	XP_016860661.1:p.Ile422=
XR_001739010.1:n.1583T>A
NM_033109.5:c.1506T>A MANE Select	NP_149100.2:p.Ile502=