Canonical Allele Identifier: CA400062301

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024015T>C (hg19) ; chr17:g.47946649T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946649T>C , CM000679.2:g.47946649T>C	GRCh38
NC_000017.10:g.46024015T>C , CM000679.1:g.46024015T>C	GRCh37
NC_000017.9:g.43379014T>C	NCBI36
NG_008744.1:g.10127T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.524T>C	ENSP00000225573.5:p.Phe175Ser
ENST00000434554.7:c.599T>C	ENSP00000399960.3:p.Phe200Ser
ENST00000582171.6:c.*318T>C	ENSP00000463994.1:n.*318T>C
ENST00000583599.6:c.413T>C	ENSP00000463919.2:p.Phe138Ser
ENST00000584061.6:c.584T>C	ENSP00000463972.2:p.Phe195Ser
ENST00000584806.2:n.322T>C
ENST00000641285.1:n.433T>C
ENST00000641305.1:n.2152T>C
ENST00000641323.1:c.*672T>C	ENSP00000492965.1:n.*672T>C
ENST00000641427.1:n.653T>C
ENST00000641511.1:c.385T>C
ENST00000641703.1:c.369T>C	ENSP00000493219.1:n.369T>C
ENST00000641709.1:c.*475T>C	ENSP00000493349.1:n.*475T>C
ENST00000641856.1:c.*1161T>C	ENSP00000493224.1:n.*1161T>C
ENST00000642017.2:c.653T>C MANE Select	ENSP00000493302.2:p.Phe218Ser
ENST00000225573.4:c.653T>C	ENSP00000225573.4:p.Phe218Ser
ENST00000434554.6:c.524T>C	ENSP00000399960.2:p.Phe175Ser
ENST00000582171.5:c.*318T>C	ENSP00000463994.1:n.*318T>C
ENST00000584806.1:n.322T>C
ENST00000585320.5:c.*135T>C	ENSP00000462345.1:n.*135T>C
NM_018129.3:c.653T>C	NP_060599.1:p.Phe218Ser
XM_005257500.2:c.413T>C	XP_005257557.1:p.Phe138Ser
XM_011524968.1:c.368T>C	XP_011523270.1:p.Phe123Ser
XM_005257500.3:c.413T>C	XP_005257557.1:p.Phe138Ser
XM_011524968.2:c.368T>C	XP_011523270.1:p.Phe123Ser
XM_017024813.1:c.413T>C	XP_016880302.1:p.Phe138Ser
NM_018129.4:c.653T>C MANE Select	NP_060599.1:p.Phe218Ser