Canonical Allele Identifier: CA400062652

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024046C>A (hg19) ; chr17:g.47946680C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946680C>A , CM000679.2:g.47946680C>A	GRCh38
NC_000017.10:g.46024046C>A , CM000679.1:g.46024046C>A	GRCh37
NC_000017.9:g.43379045C>A	NCBI36
NG_008744.1:g.10158C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000225573.5:c.555C>A	ENSP00000225573.5:p.Asp185Glu
ENST00000434554.7:c.630C>A	ENSP00000399960.3:p.Asp210Glu
ENST00000582171.6:c.*349C>A	ENSP00000463994.1:n.*349C>A
ENST00000583599.6:c.444C>A	ENSP00000463919.2:p.Asp148Glu
ENST00000584061.6:c.615C>A	ENSP00000463972.2:p.Asp205Glu
ENST00000584806.2:n.353C>A
ENST00000641285.1:n.464C>A
ENST00000641305.1:n.2183C>A
ENST00000641323.1:c.*703C>A	ENSP00000492965.1:n.*703C>A
ENST00000641427.1:n.684C>A
ENST00000641511.1:c.416C>A
ENST00000641703.1:c.400C>A	ENSP00000493219.1:n.400C>A
ENST00000641709.1:c.*506C>A	ENSP00000493349.1:n.*506C>A
ENST00000641856.1:c.*1192C>A	ENSP00000493224.1:n.*1192C>A
ENST00000642017.2:c.684C>A MANE Select	ENSP00000493302.2:p.Asp228Glu
ENST00000225573.4:c.684C>A	ENSP00000225573.4:p.Asp228Glu
ENST00000434554.6:c.555C>A	ENSP00000399960.2:p.Asp185Glu
ENST00000582171.5:c.*349C>A	ENSP00000463994.1:n.*349C>A
ENST00000584806.1:n.353C>A
ENST00000585320.5:c.*166C>A	ENSP00000462345.1:n.*166C>A
NM_018129.3:c.684C>A	NP_060599.1:p.Asp228Glu
XM_005257500.2:c.444C>A	XP_005257557.1:p.Asp148Glu
XM_011524968.1:c.399C>A	XP_011523270.1:p.Asp133Glu
XM_005257500.3:c.444C>A	XP_005257557.1:p.Asp148Glu
XM_011524968.2:c.399C>A	XP_011523270.1:p.Asp133Glu
XM_017024813.1:c.444C>A	XP_016880302.1:p.Asp148Glu
NM_018129.4:c.684C>A MANE Select	NP_060599.1:p.Asp228Glu