Canonical Allele Identifier: CA400062576

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024041C>G (hg19) ; chr17:g.47946675C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946675C>G , CM000679.2:g.47946675C>G	GRCh38
NC_000017.10:g.46024041C>G , CM000679.1:g.46024041C>G	GRCh37
NC_000017.9:g.43379040C>G	NCBI36
NG_008744.1:g.10153C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000225573.5:c.550C>G	ENSP00000225573.5:p.His184Asp
ENST00000434554.7:c.625C>G	ENSP00000399960.3:p.His209Asp
ENST00000582171.6:c.*344C>G	ENSP00000463994.1:n.*344C>G
ENST00000583599.6:c.439C>G	ENSP00000463919.2:p.His147Asp
ENST00000584061.6:c.610C>G	ENSP00000463972.2:p.His204Asp
ENST00000584806.2:n.348C>G
ENST00000641285.1:n.459C>G
ENST00000641305.1:n.2178C>G
ENST00000641323.1:c.*698C>G	ENSP00000492965.1:n.*698C>G
ENST00000641427.1:n.679C>G
ENST00000641511.1:c.411C>G
ENST00000641703.1:c.395C>G	ENSP00000493219.1:n.395C>G
ENST00000641709.1:c.*501C>G	ENSP00000493349.1:n.*501C>G
ENST00000641856.1:c.*1187C>G	ENSP00000493224.1:n.*1187C>G
ENST00000642017.2:c.679C>G MANE Select	ENSP00000493302.2:p.His227Asp
ENST00000225573.4:c.679C>G	ENSP00000225573.4:p.His227Asp
ENST00000434554.6:c.550C>G	ENSP00000399960.2:p.His184Asp
ENST00000582171.5:c.*344C>G	ENSP00000463994.1:n.*344C>G
ENST00000584806.1:n.348C>G
ENST00000585320.5:c.*161C>G	ENSP00000462345.1:n.*161C>G
NM_018129.3:c.679C>G	NP_060599.1:p.His227Asp
XM_005257500.2:c.439C>G	XP_005257557.1:p.His147Asp
XM_011524968.1:c.394C>G	XP_011523270.1:p.His132Asp
XM_005257500.3:c.439C>G	XP_005257557.1:p.His147Asp
XM_011524968.2:c.394C>G	XP_011523270.1:p.His132Asp
XM_017024813.1:c.439C>G	XP_016880302.1:p.His147Asp
NM_018129.4:c.679C>G MANE Select	NP_060599.1:p.His227Asp