Canonical Allele Identifier: CA772599168

Gene: PNPO

Linked Data

• dbSNP Id: rs1318643237
• gnomAD v3: 17-47946897-C-G
• gnomAD v4: 17-47946897-C-G
• MyVariant Identifiers: chr17:g.46024263C>G (hg19) ; chr17:g.47946897C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946897C>G , CM000679.2:g.47946897C>G	GRCh38
NC_000017.10:g.46024263C>G , CM000679.1:g.46024263C>G	GRCh37
NC_000017.9:g.43379262C>G	NCBI36
NG_008744.1:g.10375C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.*115C>G	ENSP00000225573.5:n.*115C>G
ENST00000434554.7:c.*115C>G	ENSP00000399960.3:n.*115C>G
ENST00000582171.6:c.*566C>G	ENSP00000463994.1:n.*566C>G
ENST00000584806.2:n.570C>G
ENST00000641305.1:n.2400C>G
ENST00000641323.1:c.*920C>G	ENSP00000492965.1:n.*920C>G
ENST00000641427.1:n.901C>G
ENST00000641703.1:c.617C>G	ENSP00000493219.1:n.617C>G
ENST00000641709.1:c.*723C>G	ENSP00000493349.1:n.*723C>G
ENST00000641856.1:c.*1409C>G	ENSP00000493224.1:n.*1409C>G
ENST00000642017.2:c.*115C>G MANE Select	ENSP00000493302.2:n.*115C>G
ENST00000225573.4:c.*115C>G	ENSP00000225573.4:n.*115C>G
ENST00000434554.6:c.*115C>G	ENSP00000399960.2:n.*115C>G
ENST00000582171.5:c.*566C>G	ENSP00000463994.1:n.*566C>G
NM_018129.3:c.*115C>G	NP_060599.1:n.*115C>G
XM_005257500.2:c.*115C>G	XP_005257557.1:n.*115C>G
XM_011524968.1:c.*115C>G	XP_011523270.1:n.*115C>G
XM_005257500.3:c.*115C>G	XP_005257557.1:n.*115C>G
XM_011524968.2:c.*115C>G	XP_011523270.1:n.*115C>G
XM_017024813.1:c.*115C>G	XP_016880302.1:n.*115C>G
NM_018129.4:c.*115C>G MANE Select	NP_060599.1:n.*115C>G