Canonical Allele Identifier: CA400063139

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024089T>G (hg19) ; chr17:g.47946723T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946723T>G , CM000679.2:g.47946723T>G	GRCh38
NC_000017.10:g.46024089T>G , CM000679.1:g.46024089T>G	GRCh37
NC_000017.9:g.43379088T>G	NCBI36
NG_008744.1:g.10201T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000225573.5:c.598T>G	ENSP00000225573.5:p.Leu200Val
ENST00000434554.7:c.673T>G	ENSP00000399960.3:p.Leu225Val
ENST00000582171.6:c.*392T>G	ENSP00000463994.1:n.*392T>G
ENST00000583599.6:c.487T>G	ENSP00000463919.2:p.Leu163Val
ENST00000584061.6:c.658T>G	ENSP00000463972.2:p.Leu220Val
ENST00000584806.2:n.396T>G
ENST00000641305.1:n.2226T>G
ENST00000641323.1:c.*746T>G	ENSP00000492965.1:n.*746T>G
ENST00000641427.1:n.727T>G
ENST00000641703.1:c.443T>G	ENSP00000493219.1:n.443T>G
ENST00000641709.1:c.*549T>G	ENSP00000493349.1:n.*549T>G
ENST00000641856.1:c.*1235T>G	ENSP00000493224.1:n.*1235T>G
ENST00000642017.2:c.727T>G MANE Select	ENSP00000493302.2:p.Leu243Val
ENST00000225573.4:c.727T>G	ENSP00000225573.4:p.Leu243Val
ENST00000434554.6:c.598T>G	ENSP00000399960.2:p.Leu200Val
ENST00000582171.5:c.*392T>G	ENSP00000463994.1:n.*392T>G
ENST00000584806.1:n.396T>G
ENST00000585320.5:c.*209T>G	ENSP00000462345.1:n.*209T>G
NM_018129.3:c.727T>G	NP_060599.1:p.Leu243Val
XM_005257500.2:c.487T>G	XP_005257557.1:p.Leu163Val
XM_011524968.1:c.442T>G	XP_011523270.1:p.Leu148Val
XM_005257500.3:c.487T>G	XP_005257557.1:p.Leu163Val
XM_011524968.2:c.442T>G	XP_011523270.1:p.Leu148Val
XM_017024813.1:c.487T>G	XP_016880302.1:p.Leu163Val
NM_018129.4:c.727T>G MANE Select	NP_060599.1:p.Leu243Val