Canonical Allele Identifier: CA291297469

Gene: PNPO

Linked Data

• dbSNP Id: rs926193300
• gnomAD v3: 17-47946967-G-A
• gnomAD v4: 17-47946967-G-A
• MyVariant Identifiers: chr17:g.46024333G>A (hg19) ; chr17:g.47946967G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946967G>A , CM000679.2:g.47946967G>A	GRCh38
NC_000017.10:g.46024333G>A , CM000679.1:g.46024333G>A	GRCh37
NC_000017.9:g.43379332G>A	NCBI36
NG_008744.1:g.10445G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.*185G>A	ENSP00000225573.5:n.*185G>A
ENST00000434554.7:c.*185G>A	ENSP00000399960.3:n.*185G>A
ENST00000582171.6:c.*636G>A	ENSP00000463994.1:n.*636G>A
ENST00000584806.2:n.640G>A
ENST00000641305.1:n.2470G>A
ENST00000641323.1:c.*990G>A	ENSP00000492965.1:n.*990G>A
ENST00000641427.1:n.971G>A
ENST00000641703.1:c.687G>A	ENSP00000493219.1:n.687G>A
ENST00000641709.1:c.*793G>A	ENSP00000493349.1:n.*793G>A
ENST00000641856.1:c.*1479G>A	ENSP00000493224.1:n.*1479G>A
ENST00000642017.2:c.*185G>A MANE Select	ENSP00000493302.2:n.*185G>A
ENST00000225573.4:c.*185G>A	ENSP00000225573.4:n.*185G>A
ENST00000434554.6:c.*185G>A	ENSP00000399960.2:n.*185G>A
ENST00000582171.5:c.*636G>A	ENSP00000463994.1:n.*636G>A
NM_018129.3:c.*185G>A	NP_060599.1:n.*185G>A
XM_005257500.2:c.*185G>A	XP_005257557.1:n.*185G>A
XM_011524968.1:c.*185G>A	XP_011523270.1:n.*185G>A
XM_005257500.3:c.*185G>A	XP_005257557.1:n.*185G>A
XM_011524968.2:c.*185G>A	XP_011523270.1:n.*185G>A
XM_017024813.1:c.*185G>A	XP_016880302.1:n.*185G>A
NM_018129.4:c.*185G>A MANE Select	NP_060599.1:n.*185G>A