Canonical Allele Identifier: CA400063052

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024083T>G (hg19) ; chr17:g.47946717T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946717T>G , CM000679.2:g.47946717T>G	GRCh38
NC_000017.10:g.46024083T>G , CM000679.1:g.46024083T>G	GRCh37
NC_000017.9:g.43379082T>G	NCBI36
NG_008744.1:g.10195T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.592T>G	ENSP00000225573.5:p.Ser198Ala
ENST00000434554.7:c.667T>G	ENSP00000399960.3:p.Ser223Ala
ENST00000582171.6:c.*386T>G	ENSP00000463994.1:n.*386T>G
ENST00000583599.6:c.481T>G	ENSP00000463919.2:p.Ser161Ala
ENST00000584061.6:c.652T>G	ENSP00000463972.2:p.Ser218Ala
ENST00000584806.2:n.390T>G
ENST00000641305.1:n.2220T>G
ENST00000641323.1:c.*740T>G	ENSP00000492965.1:n.*740T>G
ENST00000641427.1:n.721T>G
ENST00000641511.1:c.453T>G
ENST00000641703.1:c.437T>G	ENSP00000493219.1:n.437T>G
ENST00000641709.1:c.*543T>G	ENSP00000493349.1:n.*543T>G
ENST00000641856.1:c.*1229T>G	ENSP00000493224.1:n.*1229T>G
ENST00000642017.2:c.721T>G MANE Select	ENSP00000493302.2:p.Ser241Ala
ENST00000225573.4:c.721T>G	ENSP00000225573.4:p.Ser241Ala
ENST00000434554.6:c.592T>G	ENSP00000399960.2:p.Ser198Ala
ENST00000582171.5:c.*386T>G	ENSP00000463994.1:n.*386T>G
ENST00000584806.1:n.390T>G
ENST00000585320.5:c.*203T>G	ENSP00000462345.1:n.*203T>G
NM_018129.3:c.721T>G	NP_060599.1:p.Ser241Ala
XM_005257500.2:c.481T>G	XP_005257557.1:p.Ser161Ala
XM_011524968.1:c.436T>G	XP_011523270.1:p.Ser146Ala
XM_005257500.3:c.481T>G	XP_005257557.1:p.Ser161Ala
XM_011524968.2:c.436T>G	XP_011523270.1:p.Ser146Ala
XM_017024813.1:c.481T>G	XP_016880302.1:p.Ser161Ala
NM_018129.4:c.721T>G MANE Select	NP_060599.1:p.Ser241Ala