Canonical Allele Identifier: CA291297175

Gene: PNPO

Linked Data

• ClinVar Variation Id: 2106141
• ClinVar RCV Id: RCV003045297
• dbSNP Id: rs959930110
• gnomAD v2: 17-46024054-T-A
• gnomAD v3: 17-47946688-T-A
• gnomAD v4: 17-47946688-T-A
• MyVariant Identifiers: chr17:g.46024054T>A (hg19) ; chr17:g.47946688T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946688T>A , CM000679.2:g.47946688T>A	GRCh38
NC_000017.10:g.46024054T>A , CM000679.1:g.46024054T>A	GRCh37
NC_000017.9:g.43379053T>A	NCBI36
NG_008744.1:g.10166T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.563T>A	ENSP00000225573.5:p.Val188Asp
ENST00000434554.7:c.638T>A	ENSP00000399960.3:p.Val213Asp
ENST00000582171.6:c.*357T>A	ENSP00000463994.1:n.*357T>A
ENST00000583599.6:c.452T>A	ENSP00000463919.2:p.Val151Asp
ENST00000584061.6:c.623T>A	ENSP00000463972.2:p.Val208Asp
ENST00000584806.2:n.361T>A
ENST00000641285.1:n.472T>A
ENST00000641305.1:n.2191T>A
ENST00000641323.1:c.*711T>A	ENSP00000492965.1:n.*711T>A
ENST00000641427.1:n.692T>A
ENST00000641511.1:c.424T>A
ENST00000641703.1:c.408T>A	ENSP00000493219.1:n.408T>A
ENST00000641709.1:c.*514T>A	ENSP00000493349.1:n.*514T>A
ENST00000641856.1:c.*1200T>A	ENSP00000493224.1:n.*1200T>A
ENST00000642017.2:c.692T>A MANE Select	ENSP00000493302.2:p.Val231Asp
ENST00000225573.4:c.692T>A	ENSP00000225573.4:p.Val231Asp
ENST00000434554.6:c.563T>A	ENSP00000399960.2:p.Val188Asp
ENST00000582171.5:c.*357T>A	ENSP00000463994.1:n.*357T>A
ENST00000584806.1:n.361T>A
ENST00000585320.5:c.*174T>A	ENSP00000462345.1:n.*174T>A
NM_018129.3:c.692T>A	NP_060599.1:p.Val231Asp
XM_005257500.2:c.452T>A	XP_005257557.1:p.Val151Asp
XM_011524968.1:c.407T>A	XP_011523270.1:p.Val136Asp
XM_005257500.3:c.452T>A	XP_005257557.1:p.Val151Asp
XM_011524968.2:c.407T>A	XP_011523270.1:p.Val136Asp
XM_017024813.1:c.452T>A	XP_016880302.1:p.Val151Asp
NM_018129.4:c.692T>A MANE Select	NP_060599.1:p.Val231Asp