Canonical Allele Identifier: CA400062594

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024044G>T (hg19) ; chr17:g.47946678G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946678G>T , CM000679.2:g.47946678G>T	GRCh38
NC_000017.10:g.46024044G>T , CM000679.1:g.46024044G>T	GRCh37
NC_000017.9:g.43379043G>T	NCBI36
NG_008744.1:g.10156G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000225573.5:c.553G>T	ENSP00000225573.5:p.Asp185Tyr
ENST00000434554.7:c.628G>T	ENSP00000399960.3:p.Asp210Tyr
ENST00000582171.6:c.*347G>T	ENSP00000463994.1:n.*347G>T
ENST00000583599.6:c.442G>T	ENSP00000463919.2:p.Asp148Tyr
ENST00000584061.6:c.613G>T	ENSP00000463972.2:p.Asp205Tyr
ENST00000584806.2:n.351G>T
ENST00000641285.1:n.462G>T
ENST00000641305.1:n.2181G>T
ENST00000641323.1:c.*701G>T	ENSP00000492965.1:n.*701G>T
ENST00000641427.1:n.682G>T
ENST00000641511.1:c.414G>T
ENST00000641703.1:c.398G>T	ENSP00000493219.1:n.398G>T
ENST00000641709.1:c.*504G>T	ENSP00000493349.1:n.*504G>T
ENST00000641856.1:c.*1190G>T	ENSP00000493224.1:n.*1190G>T
ENST00000642017.2:c.682G>T MANE Select	ENSP00000493302.2:p.Asp228Tyr
ENST00000225573.4:c.682G>T	ENSP00000225573.4:p.Asp228Tyr
ENST00000434554.6:c.553G>T	ENSP00000399960.2:p.Asp185Tyr
ENST00000582171.5:c.*347G>T	ENSP00000463994.1:n.*347G>T
ENST00000584806.1:n.351G>T
ENST00000585320.5:c.*164G>T	ENSP00000462345.1:n.*164G>T
NM_018129.3:c.682G>T	NP_060599.1:p.Asp228Tyr
XM_005257500.2:c.442G>T	XP_005257557.1:p.Asp148Tyr
XM_011524968.1:c.397G>T	XP_011523270.1:p.Asp133Tyr
XM_005257500.3:c.442G>T	XP_005257557.1:p.Asp148Tyr
XM_011524968.2:c.397G>T	XP_011523270.1:p.Asp133Tyr
XM_017024813.1:c.442G>T	XP_016880302.1:p.Asp148Tyr
NM_018129.4:c.682G>T MANE Select	NP_060599.1:p.Asp228Tyr