Canonical Allele Identifier: CA400062888

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024069T>A (hg19) ; chr17:g.47946703T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946703T>A , CM000679.2:g.47946703T>A	GRCh38
NC_000017.10:g.46024069T>A , CM000679.1:g.46024069T>A	GRCh37
NC_000017.9:g.43379068T>A	NCBI36
NG_008744.1:g.10181T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.578T>A	ENSP00000225573.5:p.Leu193Gln
ENST00000434554.7:c.653T>A	ENSP00000399960.3:p.Leu218Gln
ENST00000582171.6:c.*372T>A	ENSP00000463994.1:n.*372T>A
ENST00000583599.6:c.467T>A	ENSP00000463919.2:p.Leu156Gln
ENST00000584061.6:c.638T>A	ENSP00000463972.2:p.Leu213Gln
ENST00000584806.2:n.376T>A
ENST00000641285.1:n.487T>A
ENST00000641305.1:n.2206T>A
ENST00000641323.1:c.*726T>A	ENSP00000492965.1:n.*726T>A
ENST00000641427.1:n.707T>A
ENST00000641511.1:c.439T>A
ENST00000641703.1:c.423T>A	ENSP00000493219.1:n.423T>A
ENST00000641709.1:c.*529T>A	ENSP00000493349.1:n.*529T>A
ENST00000641856.1:c.*1215T>A	ENSP00000493224.1:n.*1215T>A
ENST00000642017.2:c.707T>A MANE Select	ENSP00000493302.2:p.Leu236Gln
ENST00000225573.4:c.707T>A	ENSP00000225573.4:p.Leu236Gln
ENST00000434554.6:c.578T>A	ENSP00000399960.2:p.Leu193Gln
ENST00000582171.5:c.*372T>A	ENSP00000463994.1:n.*372T>A
ENST00000584806.1:n.376T>A
ENST00000585320.5:c.*189T>A	ENSP00000462345.1:n.*189T>A
NM_018129.3:c.707T>A	NP_060599.1:p.Leu236Gln
XM_005257500.2:c.467T>A	XP_005257557.1:p.Leu156Gln
XM_011524968.1:c.422T>A	XP_011523270.1:p.Leu141Gln
XM_005257500.3:c.467T>A	XP_005257557.1:p.Leu156Gln
XM_011524968.2:c.422T>A	XP_011523270.1:p.Leu141Gln
XM_017024813.1:c.467T>A	XP_016880302.1:p.Leu156Gln
NM_018129.4:c.707T>A MANE Select	NP_060599.1:p.Leu236Gln