Canonical Allele Identifier: CA772599083

Gene: PNPO

Linked Data

• dbSNP Id: rs1404112256
• gnomAD v3: 17-47946799-C-A
• gnomAD v4: 17-47946799-C-A
• MyVariant Identifiers: chr17:g.46024165C>A (hg19) ; chr17:g.47946799C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946799C>A , CM000679.2:g.47946799C>A	GRCh38
NC_000017.10:g.46024165C>A , CM000679.1:g.46024165C>A	GRCh37
NC_000017.9:g.43379164C>A	NCBI36
NG_008744.1:g.10277C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.*17C>A	ENSP00000225573.5:n.*17C>A
ENST00000434554.7:c.*17C>A	ENSP00000399960.3:n.*17C>A
ENST00000582171.6:c.*468C>A	ENSP00000463994.1:n.*468C>A
ENST00000584806.2:n.472C>A
ENST00000641305.1:n.2302C>A
ENST00000641323.1:c.*822C>A	ENSP00000492965.1:n.*822C>A
ENST00000641427.1:n.803C>A
ENST00000641703.1:c.519C>A	ENSP00000493219.1:n.519C>A
ENST00000641709.1:c.*625C>A	ENSP00000493349.1:n.*625C>A
ENST00000641856.1:c.*1311C>A	ENSP00000493224.1:n.*1311C>A
ENST00000642017.2:c.*17C>A MANE Select	ENSP00000493302.2:n.*17C>A
ENST00000225573.4:c.*17C>A	ENSP00000225573.4:n.*17C>A
ENST00000434554.6:c.*17C>A	ENSP00000399960.2:n.*17C>A
ENST00000582171.5:c.*468C>A	ENSP00000463994.1:n.*468C>A
ENST00000584806.1:n.472C>A
NM_018129.3:c.*17C>A	NP_060599.1:n.*17C>A
XM_005257500.2:c.*17C>A	XP_005257557.1:n.*17C>A
XM_011524968.1:c.*17C>A	XP_011523270.1:n.*17C>A
XM_005257500.3:c.*17C>A	XP_005257557.1:n.*17C>A
XM_011524968.2:c.*17C>A	XP_011523270.1:n.*17C>A
XM_017024813.1:c.*17C>A	XP_016880302.1:n.*17C>A
NM_018129.4:c.*17C>A MANE Select	NP_060599.1:n.*17C>A