Canonical Allele Identifier: CA316564

Gene: PNPO

Linked Data

• ClinVar Variation Id: 206450
• ClinVar RCV Id: RCV000188498 ; RCV000850584 ; RCV004537581
• dbSNP Id: rs769266169
• ExAC: 17:46024035 C / T
• gnomAD v2: 17-46024035-C-T
• gnomAD v4: 17-47946669-C-T
• MyVariant Identifiers: chr17:g.46024035C>T (hg19) ; chr17:g.47946669C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946669C>T , CM000679.2:g.47946669C>T	GRCh38
NC_000017.10:g.46024035C>T , CM000679.1:g.46024035C>T	GRCh37
NC_000017.9:g.43379034C>T	NCBI36
NG_008744.1:g.10147C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.544C>T	ENSP00000225573.5:p.Arg182Cys
ENST00000434554.7:c.619C>T	ENSP00000399960.3:p.Arg207Cys
ENST00000582171.6:c.*338C>T	ENSP00000463994.1:n.*338C>T
ENST00000583599.6:c.433C>T	ENSP00000463919.2:p.Arg145Cys
ENST00000584061.6:c.604C>T	ENSP00000463972.2:p.Arg202Cys
ENST00000584806.2:n.342C>T
ENST00000641285.1:n.453C>T
ENST00000641305.1:n.2172C>T
ENST00000641323.1:c.*692C>T	ENSP00000492965.1:n.*692C>T
ENST00000641427.1:n.673C>T
ENST00000641511.1:c.405C>T
ENST00000641703.1:c.389C>T	ENSP00000493219.1:n.389C>T
ENST00000641709.1:c.*495C>T	ENSP00000493349.1:n.*495C>T
ENST00000641856.1:c.*1181C>T	ENSP00000493224.1:n.*1181C>T
ENST00000642017.2:c.673C>T MANE Select	ENSP00000493302.2:p.Arg225Cys
ENST00000225573.4:c.673C>T	ENSP00000225573.4:p.Arg225Cys
ENST00000434554.6:c.544C>T	ENSP00000399960.2:p.Arg182Cys
ENST00000582171.5:c.*338C>T	ENSP00000463994.1:n.*338C>T
ENST00000584806.1:n.342C>T
ENST00000585320.5:c.*155C>T	ENSP00000462345.1:n.*155C>T
NM_018129.3:c.673C>T	NP_060599.1:p.Arg225Cys
XM_005257500.2:c.433C>T	XP_005257557.1:p.Arg145Cys
XM_011524968.1:c.388C>T	XP_011523270.1:p.Arg130Cys
XM_005257500.3:c.433C>T	XP_005257557.1:p.Arg145Cys
XM_011524968.2:c.388C>T	XP_011523270.1:p.Arg130Cys
XM_017024813.1:c.433C>T	XP_016880302.1:p.Arg145Cys
NM_018129.4:c.673C>T MANE Select	NP_060599.1:p.Arg225Cys