Canonical Allele Identifier: CA400062337

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024019G>C (hg19) ; chr17:g.47946653G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946653G>C , CM000679.2:g.47946653G>C	GRCh38
NC_000017.10:g.46024019G>C , CM000679.1:g.46024019G>C	GRCh37
NC_000017.9:g.43379018G>C	NCBI36
NG_008744.1:g.10131G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.528G>C	ENSP00000225573.5:p.Trp176Cys
ENST00000434554.7:c.603G>C	ENSP00000399960.3:p.Trp201Cys
ENST00000582171.6:c.*322G>C	ENSP00000463994.1:n.*322G>C
ENST00000583599.6:c.417G>C	ENSP00000463919.2:p.Trp139Cys
ENST00000584061.6:c.588G>C	ENSP00000463972.2:p.Trp196Cys
ENST00000584806.2:n.326G>C
ENST00000641285.1:n.437G>C
ENST00000641305.1:n.2156G>C
ENST00000641323.1:c.*676G>C	ENSP00000492965.1:n.*676G>C
ENST00000641427.1:n.657G>C
ENST00000641511.1:c.389G>C
ENST00000641703.1:c.373G>C	ENSP00000493219.1:n.373G>C
ENST00000641709.1:c.*479G>C	ENSP00000493349.1:n.*479G>C
ENST00000641856.1:c.*1165G>C	ENSP00000493224.1:n.*1165G>C
ENST00000642017.2:c.657G>C MANE Select	ENSP00000493302.2:p.Trp219Cys
ENST00000225573.4:c.657G>C	ENSP00000225573.4:p.Trp219Cys
ENST00000434554.6:c.528G>C	ENSP00000399960.2:p.Trp176Cys
ENST00000582171.5:c.*322G>C	ENSP00000463994.1:n.*322G>C
ENST00000584806.1:n.326G>C
ENST00000585320.5:c.*139G>C	ENSP00000462345.1:n.*139G>C
NM_018129.3:c.657G>C	NP_060599.1:p.Trp219Cys
XM_005257500.2:c.417G>C	XP_005257557.1:p.Trp139Cys
XM_011524968.1:c.372G>C	XP_011523270.1:p.Trp124Cys
XM_005257500.3:c.417G>C	XP_005257557.1:p.Trp139Cys
XM_011524968.2:c.372G>C	XP_011523270.1:p.Trp124Cys
XM_017024813.1:c.417G>C	XP_016880302.1:p.Trp139Cys
NM_018129.4:c.657G>C MANE Select	NP_060599.1:p.Trp219Cys