Canonical Allele Identifier: CA400062410

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024027A>T (hg19) ; chr17:g.47946661A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946661A>T , CM000679.2:g.47946661A>T	GRCh38
NC_000017.10:g.46024027A>T , CM000679.1:g.46024027A>T	GRCh37
NC_000017.9:g.43379026A>T	NCBI36
NG_008744.1:g.10139A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.536A>T	ENSP00000225573.5:p.Gln179Leu
ENST00000434554.7:c.611A>T	ENSP00000399960.3:p.Gln204Leu
ENST00000582171.6:c.*330A>T	ENSP00000463994.1:n.*330A>T
ENST00000583599.6:c.425A>T	ENSP00000463919.2:p.Gln142Leu
ENST00000584061.6:c.596A>T	ENSP00000463972.2:p.Gln199Leu
ENST00000584806.2:n.334A>T
ENST00000641285.1:n.445A>T
ENST00000641305.1:n.2164A>T
ENST00000641323.1:c.*684A>T	ENSP00000492965.1:n.*684A>T
ENST00000641427.1:n.665A>T
ENST00000641511.1:c.397A>T
ENST00000641703.1:c.381A>T	ENSP00000493219.1:n.381A>T
ENST00000641709.1:c.*487A>T	ENSP00000493349.1:n.*487A>T
ENST00000641856.1:c.*1173A>T	ENSP00000493224.1:n.*1173A>T
ENST00000642017.2:c.665A>T MANE Select	ENSP00000493302.2:p.Gln222Leu
ENST00000225573.4:c.665A>T	ENSP00000225573.4:p.Gln222Leu
ENST00000434554.6:c.536A>T	ENSP00000399960.2:p.Gln179Leu
ENST00000582171.5:c.*330A>T	ENSP00000463994.1:n.*330A>T
ENST00000584806.1:n.334A>T
ENST00000585320.5:c.*147A>T	ENSP00000462345.1:n.*147A>T
NM_018129.3:c.665A>T	NP_060599.1:p.Gln222Leu
XM_005257500.2:c.425A>T	XP_005257557.1:p.Gln142Leu
XM_011524968.1:c.380A>T	XP_011523270.1:p.Gln127Leu
XM_005257500.3:c.425A>T	XP_005257557.1:p.Gln142Leu
XM_011524968.2:c.380A>T	XP_011523270.1:p.Gln127Leu
XM_017024813.1:c.425A>T	XP_016880302.1:p.Gln142Leu
NM_018129.4:c.665A>T MANE Select	NP_060599.1:p.Gln222Leu