Canonical Allele Identifier: CA400061954

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46023985G>T (hg19) ; chr17:g.47946619G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946619G>T , CM000679.2:g.47946619G>T	GRCh38
NC_000017.10:g.46023985G>T , CM000679.1:g.46023985G>T	GRCh37
NC_000017.9:g.43378984G>T	NCBI36
NG_008744.1:g.10097G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.494G>T	ENSP00000225573.5:p.Gly165Val
ENST00000434554.7:c.569G>T	ENSP00000399960.3:p.Gly190Val
ENST00000582171.6:c.*288G>T	ENSP00000463994.1:n.*288G>T
ENST00000583599.6:c.383G>T	ENSP00000463919.2:p.Gly128Val
ENST00000584061.6:c.554G>T	ENSP00000463972.2:p.Gly185Val
ENST00000584806.2:n.292G>T
ENST00000641285.1:n.403G>T
ENST00000641305.1:n.2122G>T
ENST00000641323.1:c.*642G>T	ENSP00000492965.1:n.*642G>T
ENST00000641427.1:n.623G>T
ENST00000641511.1:c.355G>T
ENST00000641703.1:c.339G>T	ENSP00000493219.1:n.339G>T
ENST00000641709.1:c.*445G>T	ENSP00000493349.1:n.*445G>T
ENST00000641856.1:c.*1131G>T	ENSP00000493224.1:n.*1131G>T
ENST00000642017.2:c.623G>T MANE Select	ENSP00000493302.2:p.Gly208Val
ENST00000225573.4:c.623G>T	ENSP00000225573.4:p.Gly208Val
ENST00000434554.6:c.494G>T	ENSP00000399960.2:p.Gly165Val
ENST00000582171.5:c.*288G>T	ENSP00000463994.1:n.*288G>T
ENST00000584806.1:n.292G>T
ENST00000585320.5:c.*105G>T	ENSP00000462345.1:n.*105G>T
NM_018129.3:c.623G>T	NP_060599.1:p.Gly208Val
XM_005257500.2:c.383G>T	XP_005257557.1:p.Gly128Val
XM_011524968.1:c.338G>T	XP_011523270.1:p.Gly113Val
XM_005257500.3:c.383G>T	XP_005257557.1:p.Gly128Val
XM_011524968.2:c.338G>T	XP_011523270.1:p.Gly113Val
XM_017024813.1:c.383G>T	XP_016880302.1:p.Gly128Val
NM_018129.4:c.623G>T MANE Select	NP_060599.1:p.Gly208Val