Canonical Allele Identifier: CA400062768

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024056T>C (hg19) ; chr17:g.47946690T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946690T>C , CM000679.2:g.47946690T>C	GRCh38
NC_000017.10:g.46024056T>C , CM000679.1:g.46024056T>C	GRCh37
NC_000017.9:g.43379055T>C	NCBI36
NG_008744.1:g.10168T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.565T>C	ENSP00000225573.5:p.Phe189Leu
ENST00000434554.7:c.640T>C	ENSP00000399960.3:p.Phe214Leu
ENST00000582171.6:c.*359T>C	ENSP00000463994.1:n.*359T>C
ENST00000583599.6:c.454T>C	ENSP00000463919.2:p.Phe152Leu
ENST00000584061.6:c.625T>C	ENSP00000463972.2:p.Phe209Leu
ENST00000584806.2:n.363T>C
ENST00000641285.1:n.474T>C
ENST00000641305.1:n.2193T>C
ENST00000641323.1:c.*713T>C	ENSP00000492965.1:n.*713T>C
ENST00000641427.1:n.694T>C
ENST00000641511.1:c.426T>C
ENST00000641703.1:c.410T>C	ENSP00000493219.1:n.410T>C
ENST00000641709.1:c.*516T>C	ENSP00000493349.1:n.*516T>C
ENST00000641856.1:c.*1202T>C	ENSP00000493224.1:n.*1202T>C
ENST00000642017.2:c.694T>C MANE Select	ENSP00000493302.2:p.Phe232Leu
ENST00000225573.4:c.694T>C	ENSP00000225573.4:p.Phe232Leu
ENST00000434554.6:c.565T>C	ENSP00000399960.2:p.Phe189Leu
ENST00000582171.5:c.*359T>C	ENSP00000463994.1:n.*359T>C
ENST00000584806.1:n.363T>C
ENST00000585320.5:c.*176T>C	ENSP00000462345.1:n.*176T>C
NM_018129.3:c.694T>C	NP_060599.1:p.Phe232Leu
XM_005257500.2:c.454T>C	XP_005257557.1:p.Phe152Leu
XM_011524968.1:c.409T>C	XP_011523270.1:p.Phe137Leu
XM_005257500.3:c.454T>C	XP_005257557.1:p.Phe152Leu
XM_011524968.2:c.409T>C	XP_011523270.1:p.Phe137Leu
XM_017024813.1:c.454T>C	XP_016880302.1:p.Phe152Leu
NM_018129.4:c.694T>C MANE Select	NP_060599.1:p.Phe232Leu