Canonical Allele Identifier: CA400062684

Gene: PNPO

Linked Data

• gnomAD v4: 17-47946684-A-C
• MyVariant Identifiers: chr17:g.46024050A>C (hg19) ; chr17:g.47946684A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946684A>C , CM000679.2:g.47946684A>C	GRCh38
NC_000017.10:g.46024050A>C , CM000679.1:g.46024050A>C	GRCh37
NC_000017.9:g.43379049A>C	NCBI36
NG_008744.1:g.10162A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.559A>C	ENSP00000225573.5:p.Ile187Leu
ENST00000434554.7:c.634A>C	ENSP00000399960.3:p.Ile212Leu
ENST00000582171.6:c.*353A>C	ENSP00000463994.1:n.*353A>C
ENST00000583599.6:c.448A>C	ENSP00000463919.2:p.Ile150Leu
ENST00000584061.6:c.619A>C	ENSP00000463972.2:p.Ile207Leu
ENST00000584806.2:n.357A>C
ENST00000641285.1:n.468A>C
ENST00000641305.1:n.2187A>C
ENST00000641323.1:c.*707A>C	ENSP00000492965.1:n.*707A>C
ENST00000641427.1:n.688A>C
ENST00000641511.1:c.420A>C
ENST00000641703.1:c.404A>C	ENSP00000493219.1:n.404A>C
ENST00000641709.1:c.*510A>C	ENSP00000493349.1:n.*510A>C
ENST00000641856.1:c.*1196A>C	ENSP00000493224.1:n.*1196A>C
ENST00000642017.2:c.688A>C MANE Select	ENSP00000493302.2:p.Ile230Leu
ENST00000225573.4:c.688A>C	ENSP00000225573.4:p.Ile230Leu
ENST00000434554.6:c.559A>C	ENSP00000399960.2:p.Ile187Leu
ENST00000582171.5:c.*353A>C	ENSP00000463994.1:n.*353A>C
ENST00000584806.1:n.357A>C
ENST00000585320.5:c.*170A>C	ENSP00000462345.1:n.*170A>C
NM_018129.3:c.688A>C	NP_060599.1:p.Ile230Leu
XM_005257500.2:c.448A>C	XP_005257557.1:p.Ile150Leu
XM_011524968.1:c.403A>C	XP_011523270.1:p.Ile135Leu
XM_005257500.3:c.448A>C	XP_005257557.1:p.Ile150Leu
XM_011524968.2:c.403A>C	XP_011523270.1:p.Ile135Leu
XM_017024813.1:c.448A>C	XP_016880302.1:p.Ile150Leu
NM_018129.4:c.688A>C MANE Select	NP_060599.1:p.Ile230Leu