Canonical Allele Identifier: CA400063016

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024081A>G (hg19) ; chr17:g.47946715A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946715A>G , CM000679.2:g.47946715A>G	GRCh38
NC_000017.10:g.46024081A>G , CM000679.1:g.46024081A>G	GRCh37
NC_000017.9:g.43379080A>G	NCBI36
NG_008744.1:g.10193A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.590A>G	ENSP00000225573.5:p.Asp197Gly
ENST00000434554.7:c.665A>G	ENSP00000399960.3:p.Asp222Gly
ENST00000582171.6:c.*384A>G	ENSP00000463994.1:n.*384A>G
ENST00000583599.6:c.479A>G	ENSP00000463919.2:p.Asp160Gly
ENST00000584061.6:c.650A>G	ENSP00000463972.2:p.Asp217Gly
ENST00000584806.2:n.388A>G
ENST00000641305.1:n.2218A>G
ENST00000641323.1:c.*738A>G	ENSP00000492965.1:n.*738A>G
ENST00000641427.1:n.719A>G
ENST00000641511.1:c.451A>G
ENST00000641703.1:c.435A>G	ENSP00000493219.1:n.435A>G
ENST00000641709.1:c.*541A>G	ENSP00000493349.1:n.*541A>G
ENST00000641856.1:c.*1227A>G	ENSP00000493224.1:n.*1227A>G
ENST00000642017.2:c.719A>G MANE Select	ENSP00000493302.2:p.Asp240Gly
ENST00000225573.4:c.719A>G	ENSP00000225573.4:p.Asp240Gly
ENST00000434554.6:c.590A>G	ENSP00000399960.2:p.Asp197Gly
ENST00000582171.5:c.*384A>G	ENSP00000463994.1:n.*384A>G
ENST00000584806.1:n.388A>G
ENST00000585320.5:c.*201A>G	ENSP00000462345.1:n.*201A>G
NM_018129.3:c.719A>G	NP_060599.1:p.Asp240Gly
XM_005257500.2:c.479A>G	XP_005257557.1:p.Asp160Gly
XM_011524968.1:c.434A>G	XP_011523270.1:p.Asp145Gly
XM_005257500.3:c.479A>G	XP_005257557.1:p.Asp160Gly
XM_011524968.2:c.434A>G	XP_011523270.1:p.Asp145Gly
XM_017024813.1:c.479A>G	XP_016880302.1:p.Asp160Gly
NM_018129.4:c.719A>G MANE Select	NP_060599.1:p.Asp240Gly