Canonical Allele Identifier: CA400062192

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024005G>A (hg19) ; chr17:g.47946639G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946639G>A , CM000679.2:g.47946639G>A	GRCh38
NC_000017.10:g.46024005G>A , CM000679.1:g.46024005G>A	GRCh37
NC_000017.9:g.43379004G>A	NCBI36
NG_008744.1:g.10117G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.514G>A	ENSP00000225573.5:p.Val172Met
ENST00000434554.7:c.589G>A	ENSP00000399960.3:p.Val197Met
ENST00000582171.6:c.*308G>A	ENSP00000463994.1:n.*308G>A
ENST00000583599.6:c.403G>A	ENSP00000463919.2:p.Val135Met
ENST00000584061.6:c.574G>A	ENSP00000463972.2:p.Val192Met
ENST00000584806.2:n.312G>A
ENST00000641285.1:n.423G>A
ENST00000641305.1:n.2142G>A
ENST00000641323.1:c.*662G>A	ENSP00000492965.1:n.*662G>A
ENST00000641427.1:n.643G>A
ENST00000641511.1:c.375G>A
ENST00000641703.1:c.359G>A	ENSP00000493219.1:n.359G>A
ENST00000641709.1:c.*465G>A	ENSP00000493349.1:n.*465G>A
ENST00000641856.1:c.*1151G>A	ENSP00000493224.1:n.*1151G>A
ENST00000642017.2:c.643G>A MANE Select	ENSP00000493302.2:p.Val215Met
ENST00000225573.4:c.643G>A	ENSP00000225573.4:p.Val215Met
ENST00000434554.6:c.514G>A	ENSP00000399960.2:p.Val172Met
ENST00000582171.5:c.*308G>A	ENSP00000463994.1:n.*308G>A
ENST00000584806.1:n.312G>A
ENST00000585320.5:c.*125G>A	ENSP00000462345.1:n.*125G>A
NM_018129.3:c.643G>A	NP_060599.1:p.Val215Met
XM_005257500.2:c.403G>A	XP_005257557.1:p.Val135Met
XM_011524968.1:c.358G>A	XP_011523270.1:p.Val120Met
XM_005257500.3:c.403G>A	XP_005257557.1:p.Val135Met
XM_011524968.2:c.358G>A	XP_011523270.1:p.Val120Met
XM_017024813.1:c.403G>A	XP_016880302.1:p.Val135Met
NM_018129.4:c.643G>A MANE Select	NP_060599.1:p.Val215Met