Canonical Allele Identifier: CA400061963

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46023987T>C (hg19) ; chr17:g.47946621T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946621T>C , CM000679.2:g.47946621T>C	GRCh38
NC_000017.10:g.46023987T>C , CM000679.1:g.46023987T>C	GRCh37
NC_000017.9:g.43378986T>C	NCBI36
NG_008744.1:g.10099T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.496T>C	ENSP00000225573.5:p.Tyr166His
ENST00000434554.7:c.571T>C	ENSP00000399960.3:p.Tyr191His
ENST00000582171.6:c.*290T>C	ENSP00000463994.1:n.*290T>C
ENST00000583599.6:c.385T>C	ENSP00000463919.2:p.Tyr129His
ENST00000584061.6:c.556T>C	ENSP00000463972.2:p.Tyr186His
ENST00000584806.2:n.294T>C
ENST00000641285.1:n.405T>C
ENST00000641305.1:n.2124T>C
ENST00000641323.1:c.*644T>C	ENSP00000492965.1:n.*644T>C
ENST00000641427.1:n.625T>C
ENST00000641511.1:c.357T>C
ENST00000641703.1:c.341T>C	ENSP00000493219.1:n.341T>C
ENST00000641709.1:c.*447T>C	ENSP00000493349.1:n.*447T>C
ENST00000641856.1:c.*1133T>C	ENSP00000493224.1:n.*1133T>C
ENST00000642017.2:c.625T>C MANE Select	ENSP00000493302.2:p.Tyr209His
ENST00000225573.4:c.625T>C	ENSP00000225573.4:p.Tyr209His
ENST00000434554.6:c.496T>C	ENSP00000399960.2:p.Tyr166His
ENST00000582171.5:c.*290T>C	ENSP00000463994.1:n.*290T>C
ENST00000584806.1:n.294T>C
ENST00000585320.5:c.*107T>C	ENSP00000462345.1:n.*107T>C
NM_018129.3:c.625T>C	NP_060599.1:p.Tyr209His
XM_005257500.2:c.385T>C	XP_005257557.1:p.Tyr129His
XM_011524968.1:c.340T>C	XP_011523270.1:p.Tyr114His
XM_005257500.3:c.385T>C	XP_005257557.1:p.Tyr129His
XM_011524968.2:c.340T>C	XP_011523270.1:p.Tyr114His
XM_017024813.1:c.385T>C	XP_016880302.1:p.Tyr129His
NM_018129.4:c.625T>C MANE Select	NP_060599.1:p.Tyr209His