Canonical Allele Identifier: CA400062136

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46023999C>G (hg19) ; chr17:g.47946633C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946633C>G , CM000679.2:g.47946633C>G	GRCh38
NC_000017.10:g.46023999C>G , CM000679.1:g.46023999C>G	GRCh37
NC_000017.9:g.43378998C>G	NCBI36
NG_008744.1:g.10111C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.508C>G	ENSP00000225573.5:p.Pro170Ala
ENST00000434554.7:c.583C>G	ENSP00000399960.3:p.Pro195Ala
ENST00000582171.6:c.*302C>G	ENSP00000463994.1:n.*302C>G
ENST00000583599.6:c.397C>G	ENSP00000463919.2:p.Pro133Ala
ENST00000584061.6:c.568C>G	ENSP00000463972.2:p.Pro190Ala
ENST00000584806.2:n.306C>G
ENST00000641285.1:n.417C>G
ENST00000641305.1:n.2136C>G
ENST00000641323.1:c.*656C>G	ENSP00000492965.1:n.*656C>G
ENST00000641427.1:n.637C>G
ENST00000641511.1:c.369C>G
ENST00000641703.1:c.353C>G	ENSP00000493219.1:n.353C>G
ENST00000641709.1:c.*459C>G	ENSP00000493349.1:n.*459C>G
ENST00000641856.1:c.*1145C>G	ENSP00000493224.1:n.*1145C>G
ENST00000642017.2:c.637C>G MANE Select	ENSP00000493302.2:p.Pro213Ala
ENST00000225573.4:c.637C>G	ENSP00000225573.4:p.Pro213Ala
ENST00000434554.6:c.508C>G	ENSP00000399960.2:p.Pro170Ala
ENST00000582171.5:c.*302C>G	ENSP00000463994.1:n.*302C>G
ENST00000584806.1:n.306C>G
ENST00000585320.5:c.*119C>G	ENSP00000462345.1:n.*119C>G
NM_018129.3:c.637C>G	NP_060599.1:p.Pro213Ala
XM_005257500.2:c.397C>G	XP_005257557.1:p.Pro133Ala
XM_011524968.1:c.352C>G	XP_011523270.1:p.Pro118Ala
XM_005257500.3:c.397C>G	XP_005257557.1:p.Pro133Ala
XM_011524968.2:c.352C>G	XP_011523270.1:p.Pro118Ala
XM_017024813.1:c.397C>G	XP_016880302.1:p.Pro133Ala
NM_018129.4:c.637C>G MANE Select	NP_060599.1:p.Pro213Ala