Canonical Allele Identifier: CA2638499519

Gene: PNPO

Linked Data

• gnomAD v4: 17-47946830-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946830G>T , CM000679.2:g.47946830G>T	GRCh38
NC_000017.10:g.46024196G>T , CM000679.1:g.46024196G>T	GRCh37
NC_000017.9:g.43379195G>T	NCBI36
NG_008744.1:g.10308G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.*48G>T	ENSP00000225573.5:n.*48G>T
ENST00000434554.7:c.*48G>T	ENSP00000399960.3:n.*48G>T
ENST00000582171.6:c.*499G>T	ENSP00000463994.1:n.*499G>T
ENST00000584806.2:n.503G>T
ENST00000641305.1:n.2333G>T
ENST00000641323.1:c.*853G>T	ENSP00000492965.1:n.*853G>T
ENST00000641427.1:n.834G>T
ENST00000641703.1:c.550G>T	ENSP00000493219.1:n.550G>T
ENST00000641709.1:c.*656G>T	ENSP00000493349.1:n.*656G>T
ENST00000641856.1:c.*1342G>T	ENSP00000493224.1:n.*1342G>T
ENST00000642017.2:c.*48G>T MANE Select	ENSP00000493302.2:n.*48G>T
ENST00000225573.4:c.*48G>T	ENSP00000225573.4:n.*48G>T
ENST00000434554.6:c.*48G>T	ENSP00000399960.2:n.*48G>T
ENST00000582171.5:c.*499G>T	ENSP00000463994.1:n.*499G>T
ENST00000584806.1:n.503G>T
NM_018129.3:c.*48G>T	NP_060599.1:n.*48G>T
XM_005257500.2:c.*48G>T	XP_005257557.1:n.*48G>T
XM_011524968.1:c.*48G>T	XP_011523270.1:n.*48G>T
XM_005257500.3:c.*48G>T	XP_005257557.1:n.*48G>T
XM_011524968.2:c.*48G>T	XP_011523270.1:n.*48G>T
XM_017024813.1:c.*48G>T	XP_016880302.1:n.*48G>T
NM_018129.4:c.*48G>T MANE Select	NP_060599.1:n.*48G>T