Canonical Allele Identifier: CA400063802

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024138T>G (hg19) ; chr17:g.47946772T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946772T>G , CM000679.2:g.47946772T>G	GRCh38
NC_000017.10:g.46024138T>G , CM000679.1:g.46024138T>G	GRCh37
NC_000017.9:g.43379137T>G	NCBI36
NG_008744.1:g.10250T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.647T>G	ENSP00000225573.5:p.Leu216Arg
ENST00000434554.7:c.722T>G	ENSP00000399960.3:p.Leu241Arg
ENST00000582171.6:c.*441T>G	ENSP00000463994.1:n.*441T>G
ENST00000584061.6:c.707T>G	ENSP00000463972.2:p.Leu236Arg
ENST00000584806.2:n.445T>G
ENST00000641305.1:n.2275T>G
ENST00000641323.1:c.*795T>G	ENSP00000492965.1:n.*795T>G
ENST00000641427.1:n.776T>G
ENST00000641703.1:c.492T>G	ENSP00000493219.1:n.492T>G
ENST00000641709.1:c.*598T>G	ENSP00000493349.1:n.*598T>G
ENST00000641856.1:c.*1284T>G	ENSP00000493224.1:n.*1284T>G
ENST00000642017.2:c.776T>G MANE Select	ENSP00000493302.2:p.Leu259Arg
ENST00000225573.4:c.776T>G	ENSP00000225573.4:p.Leu259Arg
ENST00000434554.6:c.647T>G	ENSP00000399960.2:p.Leu216Arg
ENST00000582171.5:c.*441T>G	ENSP00000463994.1:n.*441T>G
ENST00000584806.1:n.445T>G
NM_018129.3:c.776T>G	NP_060599.1:p.Leu259Arg
XM_005257500.2:c.536T>G	XP_005257557.1:p.Leu179Arg
XM_011524968.1:c.491T>G	XP_011523270.1:p.Leu164Arg
XM_005257500.3:c.536T>G	XP_005257557.1:p.Leu179Arg
XM_011524968.2:c.491T>G	XP_011523270.1:p.Leu164Arg
XM_017024813.1:c.536T>G	XP_016880302.1:p.Leu179Arg
NM_018129.4:c.776T>G MANE Select	NP_060599.1:p.Leu259Arg