Canonical Allele Identifier: CA400063196

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024091G>C (hg19) ; chr17:g.47946725G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946725G>C , CM000679.2:g.47946725G>C	GRCh38
NC_000017.10:g.46024091G>C , CM000679.1:g.46024091G>C	GRCh37
NC_000017.9:g.43379090G>C	NCBI36
NG_008744.1:g.10203G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000225573.5:c.600G>C	ENSP00000225573.5:p.Leu200Phe
ENST00000434554.7:c.675G>C	ENSP00000399960.3:p.Leu225Phe
ENST00000582171.6:c.*394G>C	ENSP00000463994.1:n.*394G>C
ENST00000583599.6:c.489G>C	ENSP00000463919.2:p.Leu163Phe
ENST00000584061.6:c.660G>C	ENSP00000463972.2:p.Leu220Phe
ENST00000584806.2:n.398G>C
ENST00000641305.1:n.2228G>C
ENST00000641323.1:c.*748G>C	ENSP00000492965.1:n.*748G>C
ENST00000641427.1:n.729G>C
ENST00000641703.1:c.445G>C	ENSP00000493219.1:n.445G>C
ENST00000641709.1:c.*551G>C	ENSP00000493349.1:n.*551G>C
ENST00000641856.1:c.*1237G>C	ENSP00000493224.1:n.*1237G>C
ENST00000642017.2:c.729G>C MANE Select	ENSP00000493302.2:p.Leu243Phe
ENST00000225573.4:c.729G>C	ENSP00000225573.4:p.Leu243Phe
ENST00000434554.6:c.600G>C	ENSP00000399960.2:p.Leu200Phe
ENST00000582171.5:c.*394G>C	ENSP00000463994.1:n.*394G>C
ENST00000584806.1:n.398G>C
ENST00000585320.5:c.*211G>C	ENSP00000462345.1:n.*211G>C
NM_018129.3:c.729G>C	NP_060599.1:p.Leu243Phe
XM_005257500.2:c.489G>C	XP_005257557.1:p.Leu163Phe
XM_011524968.1:c.444G>C	XP_011523270.1:p.Leu148Phe
XM_005257500.3:c.489G>C	XP_005257557.1:p.Leu163Phe
XM_011524968.2:c.444G>C	XP_011523270.1:p.Leu148Phe
XM_017024813.1:c.489G>C	XP_016880302.1:p.Leu163Phe
NM_018129.4:c.729G>C MANE Select	NP_060599.1:p.Leu243Phe