Canonical Allele Identifier: CA772599131

Gene: PNPO

Linked Data

• dbSNP Id: rs1181621122
• gnomAD v3: 17-47946848-C-T
• gnomAD v4: 17-47946848-C-T
• MyVariant Identifiers: chr17:g.46024214C>T (hg19) ; chr17:g.47946848C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946848C>T , CM000679.2:g.47946848C>T	GRCh38
NC_000017.10:g.46024214C>T , CM000679.1:g.46024214C>T	GRCh37
NC_000017.9:g.43379213C>T	NCBI36
NG_008744.1:g.10326C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.*66C>T	ENSP00000225573.5:n.*66C>T
ENST00000434554.7:c.*66C>T	ENSP00000399960.3:n.*66C>T
ENST00000582171.6:c.*517C>T	ENSP00000463994.1:n.*517C>T
ENST00000584806.2:n.521C>T
ENST00000641305.1:n.2351C>T
ENST00000641323.1:c.*871C>T	ENSP00000492965.1:n.*871C>T
ENST00000641427.1:n.852C>T
ENST00000641703.1:c.568C>T	ENSP00000493219.1:n.568C>T
ENST00000641709.1:c.*674C>T	ENSP00000493349.1:n.*674C>T
ENST00000641856.1:c.*1360C>T	ENSP00000493224.1:n.*1360C>T
ENST00000642017.2:c.*66C>T MANE Select	ENSP00000493302.2:n.*66C>T
ENST00000225573.4:c.*66C>T	ENSP00000225573.4:n.*66C>T
ENST00000434554.6:c.*66C>T	ENSP00000399960.2:n.*66C>T
ENST00000582171.5:c.*517C>T	ENSP00000463994.1:n.*517C>T
ENST00000584806.1:n.521C>T
NM_018129.3:c.*66C>T	NP_060599.1:n.*66C>T
XM_005257500.2:c.*66C>T	XP_005257557.1:n.*66C>T
XM_011524968.1:c.*66C>T	XP_011523270.1:n.*66C>T
XM_005257500.3:c.*66C>T	XP_005257557.1:n.*66C>T
XM_011524968.2:c.*66C>T	XP_011523270.1:n.*66C>T
XM_017024813.1:c.*66C>T	XP_016880302.1:n.*66C>T
NM_018129.4:c.*66C>T MANE Select	NP_060599.1:n.*66C>T