Canonical Allele Identifier: CA2638499742

Gene: PNPO

Linked Data

• gnomAD v4: 17-47946924-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946924T>A , CM000679.2:g.47946924T>A	GRCh38
NC_000017.10:g.46024290T>A , CM000679.1:g.46024290T>A	GRCh37
NC_000017.9:g.43379289T>A	NCBI36
NG_008744.1:g.10402T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.*142T>A	ENSP00000225573.5:n.*142T>A
ENST00000434554.7:c.*142T>A	ENSP00000399960.3:n.*142T>A
ENST00000582171.6:c.*593T>A	ENSP00000463994.1:n.*593T>A
ENST00000584806.2:n.597T>A
ENST00000641305.1:n.2427T>A
ENST00000641323.1:c.*947T>A	ENSP00000492965.1:n.*947T>A
ENST00000641427.1:n.928T>A
ENST00000641703.1:c.644T>A	ENSP00000493219.1:n.644T>A
ENST00000641709.1:c.*750T>A	ENSP00000493349.1:n.*750T>A
ENST00000641856.1:c.*1436T>A	ENSP00000493224.1:n.*1436T>A
ENST00000642017.2:c.*142T>A MANE Select	ENSP00000493302.2:n.*142T>A
ENST00000225573.4:c.*142T>A	ENSP00000225573.4:n.*142T>A
ENST00000434554.6:c.*142T>A	ENSP00000399960.2:n.*142T>A
ENST00000582171.5:c.*593T>A	ENSP00000463994.1:n.*593T>A
NM_018129.3:c.*142T>A	NP_060599.1:n.*142T>A
XM_005257500.2:c.*142T>A	XP_005257557.1:n.*142T>A
XM_011524968.1:c.*142T>A	XP_011523270.1:n.*142T>A
XM_005257500.3:c.*142T>A	XP_005257557.1:n.*142T>A
XM_011524968.2:c.*142T>A	XP_011523270.1:n.*142T>A
XM_017024813.1:c.*142T>A	XP_016880302.1:n.*142T>A
NM_018129.4:c.*142T>A MANE Select	NP_060599.1:n.*142T>A