Canonical Allele Identifier: CA16615426

Gene: PNPO

Linked Data

• ClinVar Variation Id: 409830
• ClinVar RCV Id: RCV000468236 ; RCV000992669
• dbSNP Id: rs780977054
• gnomAD v4: 17-47944614-A-G
• MyVariant Identifiers: chr17:g.46021980A>G (hg19) ; chr17:g.47944614A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47944614A>G , CM000679.2:g.47944614A>G	GRCh38
NC_000017.10:g.46021980A>G , CM000679.1:g.46021980A>G	GRCh37
NC_000017.9:g.43376979A>G	NCBI36
NG_008744.1:g.8092A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.264-2A>G	ENSP00000225573.5:n.264-2A>G
ENST00000434554.7:c.264-2A>G	ENSP00000399960.3:n.264-2A>G
ENST00000582171.6:c.139-2A>G	ENSP00000463994.1:n.139-2A>G
ENST00000583245.6:n.232-2A>G
ENST00000583599.6:c.24-2A>G	ENSP00000463919.2:n.24-2A>G
ENST00000584061.6:c.234-2A>G	ENSP00000463972.2:n.234-2A>G
ENST00000641285.1:n.44-2A>G
ENST00000641305.1:n.339-2A>G
ENST00000641323.1:c.*283-2A>G	ENSP00000492965.1:n.*283-2A>G
ENST00000641427.1:n.264-2A>G
ENST00000641511.1:c.179-2A>G
ENST00000641703.1:c.34-2A>G	ENSP00000493219.1:n.34-2A>G
ENST00000641709.1:c.*86-2A>G	ENSP00000493349.1:n.*86-2A>G
ENST00000641856.1:c.139-2A>G	ENSP00000493224.1:n.139-2A>G
ENST00000642017.2:c.264-2A>G MANE Select	ENSP00000493302.2:n.264-2A>G
ENST00000225573.4:c.264-2A>G	ENSP00000225573.4:n.264-2A>G
ENST00000434554.6:c.264-2A>G	ENSP00000399960.2:n.264-2A>G
ENST00000582171.5:c.139-2A>G	ENSP00000463994.1:n.139-2A>G
ENST00000583245.5:c.*283-2A>G	ENSP00000463520.1:n.*283-2A>G
ENST00000583599.5:c.24-2A>G	ENSP00000463919.1:n.24-2A>G
ENST00000584061.5:c.*86-2A>G	ENSP00000463972.1:n.*86-2A>G
ENST00000585320.5:c.139-2A>G	ENSP00000462345.1:n.139-2A>G
NM_018129.3:c.264-2A>G	NP_060599.1:n.264-2A>G
XM_005257500.2:c.24-2A>G	XP_005257557.1:n.24-2A>G
XM_011524968.1:c.-22-2A>G	XP_011523270.1:n.-22-2A>G
XM_005257500.3:c.24-2A>G	XP_005257557.1:n.24-2A>G
XM_011524968.2:c.-22-2A>G	XP_011523270.1:n.-22-2A>G
XM_017024813.1:c.24-2A>G	XP_016880302.1:n.24-2A>G
NM_018129.4:c.264-2A>G MANE Select	NP_060599.1:n.264-2A>G