Canonical Allele Identifier: CA400063896

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024147A>T (hg19) ; chr17:g.47946781A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946781A>T , CM000679.2:g.47946781A>T	GRCh38
NC_000017.10:g.46024147A>T , CM000679.1:g.46024147A>T	GRCh37
NC_000017.9:g.43379146A>T	NCBI36
NG_008744.1:g.10259A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000225573.5:c.656A>T	ENSP00000225573.5:p.Ter219Leu
ENST00000434554.7:c.731A>T	ENSP00000399960.3:p.Ter244Leu
ENST00000582171.6:c.*450A>T	ENSP00000463994.1:n.*450A>T
ENST00000584061.6:c.716A>T	ENSP00000463972.2:p.Ter239Leu
ENST00000584806.2:n.454A>T
ENST00000641305.1:n.2284A>T
ENST00000641323.1:c.*804A>T	ENSP00000492965.1:n.*804A>T
ENST00000641427.1:n.785A>T
ENST00000641703.1:c.501A>T	ENSP00000493219.1:n.501A>T
ENST00000641709.1:c.*607A>T	ENSP00000493349.1:n.*607A>T
ENST00000641856.1:c.*1293A>T	ENSP00000493224.1:n.*1293A>T
ENST00000642017.2:c.785A>T MANE Select	ENSP00000493302.2:p.Ter262Leu
ENST00000225573.4:c.785A>T	ENSP00000225573.4:p.Ter262Leu
ENST00000434554.6:c.656A>T	ENSP00000399960.2:p.Ter219Leu
ENST00000582171.5:c.*450A>T	ENSP00000463994.1:n.*450A>T
ENST00000584806.1:n.454A>T
NM_018129.3:c.785A>T	NP_060599.1:p.Ter262Leu
XM_005257500.2:c.545A>T	XP_005257557.1:p.Ter182Leu
XM_011524968.1:c.500A>T	XP_011523270.1:p.Ter167Leu
XM_005257500.3:c.545A>T	XP_005257557.1:p.Ter182Leu
XM_011524968.2:c.500A>T	XP_011523270.1:p.Ter167Leu
XM_017024813.1:c.545A>T	XP_016880302.1:p.Ter182Leu
NM_018129.4:c.785A>T MANE Select	NP_060599.1:p.Ter262Leu