Canonical Allele Identifier: CA400062290

Gene: PNPO

Linked Data

• gnomAD v4: 17-47946648-T-G
• MyVariant Identifiers: chr17:g.46024014T>G (hg19) ; chr17:g.47946648T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946648T>G , CM000679.2:g.47946648T>G	GRCh38
NC_000017.10:g.46024014T>G , CM000679.1:g.46024014T>G	GRCh37
NC_000017.9:g.43379013T>G	NCBI36
NG_008744.1:g.10126T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.523T>G	ENSP00000225573.5:p.Phe175Val
ENST00000434554.7:c.598T>G	ENSP00000399960.3:p.Phe200Val
ENST00000582171.6:c.*317T>G	ENSP00000463994.1:n.*317T>G
ENST00000583599.6:c.412T>G	ENSP00000463919.2:p.Phe138Val
ENST00000584061.6:c.583T>G	ENSP00000463972.2:p.Phe195Val
ENST00000584806.2:n.321T>G
ENST00000641285.1:n.432T>G
ENST00000641305.1:n.2151T>G
ENST00000641323.1:c.*671T>G	ENSP00000492965.1:n.*671T>G
ENST00000641427.1:n.652T>G
ENST00000641511.1:c.384T>G
ENST00000641703.1:c.368T>G	ENSP00000493219.1:n.368T>G
ENST00000641709.1:c.*474T>G	ENSP00000493349.1:n.*474T>G
ENST00000641856.1:c.*1160T>G	ENSP00000493224.1:n.*1160T>G
ENST00000642017.2:c.652T>G MANE Select	ENSP00000493302.2:p.Phe218Val
ENST00000225573.4:c.652T>G	ENSP00000225573.4:p.Phe218Val
ENST00000434554.6:c.523T>G	ENSP00000399960.2:p.Phe175Val
ENST00000582171.5:c.*317T>G	ENSP00000463994.1:n.*317T>G
ENST00000584806.1:n.321T>G
ENST00000585320.5:c.*134T>G	ENSP00000462345.1:n.*134T>G
NM_018129.3:c.652T>G	NP_060599.1:p.Phe218Val
XM_005257500.2:c.412T>G	XP_005257557.1:p.Phe138Val
XM_011524968.1:c.367T>G	XP_011523270.1:p.Phe123Val
XM_005257500.3:c.412T>G	XP_005257557.1:p.Phe138Val
XM_011524968.2:c.367T>G	XP_011523270.1:p.Phe123Val
XM_017024813.1:c.412T>G	XP_016880302.1:p.Phe138Val
NM_018129.4:c.652T>G MANE Select	NP_060599.1:p.Phe218Val