Canonical Allele Identifier: CA400062313

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024017T>A (hg19) ; chr17:g.47946651T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946651T>A , CM000679.2:g.47946651T>A	GRCh38
NC_000017.10:g.46024017T>A , CM000679.1:g.46024017T>A	GRCh37
NC_000017.9:g.43379016T>A	NCBI36
NG_008744.1:g.10129T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.526T>A	ENSP00000225573.5:p.Trp176Arg
ENST00000434554.7:c.601T>A	ENSP00000399960.3:p.Trp201Arg
ENST00000582171.6:c.*320T>A	ENSP00000463994.1:n.*320T>A
ENST00000583599.6:c.415T>A	ENSP00000463919.2:p.Trp139Arg
ENST00000584061.6:c.586T>A	ENSP00000463972.2:p.Trp196Arg
ENST00000584806.2:n.324T>A
ENST00000641285.1:n.435T>A
ENST00000641305.1:n.2154T>A
ENST00000641323.1:c.*674T>A	ENSP00000492965.1:n.*674T>A
ENST00000641427.1:n.655T>A
ENST00000641511.1:c.387T>A
ENST00000641703.1:c.371T>A	ENSP00000493219.1:n.371T>A
ENST00000641709.1:c.*477T>A	ENSP00000493349.1:n.*477T>A
ENST00000641856.1:c.*1163T>A	ENSP00000493224.1:n.*1163T>A
ENST00000642017.2:c.655T>A MANE Select	ENSP00000493302.2:p.Trp219Arg
ENST00000225573.4:c.655T>A	ENSP00000225573.4:p.Trp219Arg
ENST00000434554.6:c.526T>A	ENSP00000399960.2:p.Trp176Arg
ENST00000582171.5:c.*320T>A	ENSP00000463994.1:n.*320T>A
ENST00000584806.1:n.324T>A
ENST00000585320.5:c.*137T>A	ENSP00000462345.1:n.*137T>A
NM_018129.3:c.655T>A	NP_060599.1:p.Trp219Arg
XM_005257500.2:c.415T>A	XP_005257557.1:p.Trp139Arg
XM_011524968.1:c.370T>A	XP_011523270.1:p.Trp124Arg
XM_005257500.3:c.415T>A	XP_005257557.1:p.Trp139Arg
XM_011524968.2:c.370T>A	XP_011523270.1:p.Trp124Arg
XM_017024813.1:c.415T>A	XP_016880302.1:p.Trp139Arg
NM_018129.4:c.655T>A MANE Select	NP_060599.1:p.Trp219Arg