Canonical Allele Identifier: CA400062885

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024068C>G (hg19) ; chr17:g.47946702C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946702C>G , CM000679.2:g.47946702C>G	GRCh38
NC_000017.10:g.46024068C>G , CM000679.1:g.46024068C>G	GRCh37
NC_000017.9:g.43379067C>G	NCBI36
NG_008744.1:g.10180C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000225573.5:c.577C>G	ENSP00000225573.5:p.Leu193Val
ENST00000434554.7:c.652C>G	ENSP00000399960.3:p.Leu218Val
ENST00000582171.6:c.*371C>G	ENSP00000463994.1:n.*371C>G
ENST00000583599.6:c.466C>G	ENSP00000463919.2:p.Leu156Val
ENST00000584061.6:c.637C>G	ENSP00000463972.2:p.Leu213Val
ENST00000584806.2:n.375C>G
ENST00000641285.1:n.486C>G
ENST00000641305.1:n.2205C>G
ENST00000641323.1:c.*725C>G	ENSP00000492965.1:n.*725C>G
ENST00000641427.1:n.706C>G
ENST00000641511.1:c.438C>G
ENST00000641703.1:c.422C>G	ENSP00000493219.1:n.422C>G
ENST00000641709.1:c.*528C>G	ENSP00000493349.1:n.*528C>G
ENST00000641856.1:c.*1214C>G	ENSP00000493224.1:n.*1214C>G
ENST00000642017.2:c.706C>G MANE Select	ENSP00000493302.2:p.Leu236Val
ENST00000225573.4:c.706C>G	ENSP00000225573.4:p.Leu236Val
ENST00000434554.6:c.577C>G	ENSP00000399960.2:p.Leu193Val
ENST00000582171.5:c.*371C>G	ENSP00000463994.1:n.*371C>G
ENST00000584806.1:n.375C>G
ENST00000585320.5:c.*188C>G	ENSP00000462345.1:n.*188C>G
NM_018129.3:c.706C>G	NP_060599.1:p.Leu236Val
XM_005257500.2:c.466C>G	XP_005257557.1:p.Leu156Val
XM_011524968.1:c.421C>G	XP_011523270.1:p.Leu141Val
XM_005257500.3:c.466C>G	XP_005257557.1:p.Leu156Val
XM_011524968.2:c.421C>G	XP_011523270.1:p.Leu141Val
XM_017024813.1:c.466C>G	XP_016880302.1:p.Leu156Val
NM_018129.4:c.706C>G MANE Select	NP_060599.1:p.Leu236Val