Canonical Allele Identifier: CA400062413

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024028A>C (hg19) ; chr17:g.47946662A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946662A>C , CM000679.2:g.47946662A>C	GRCh38
NC_000017.10:g.46024028A>C , CM000679.1:g.46024028A>C	GRCh37
NC_000017.9:g.43379027A>C	NCBI36
NG_008744.1:g.10140A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.537A>C	ENSP00000225573.5:p.Gln179His
ENST00000434554.7:c.612A>C	ENSP00000399960.3:p.Gln204His
ENST00000582171.6:c.*331A>C	ENSP00000463994.1:n.*331A>C
ENST00000583599.6:c.426A>C	ENSP00000463919.2:p.Gln142His
ENST00000584061.6:c.597A>C	ENSP00000463972.2:p.Gln199His
ENST00000584806.2:n.335A>C
ENST00000641285.1:n.446A>C
ENST00000641305.1:n.2165A>C
ENST00000641323.1:c.*685A>C	ENSP00000492965.1:n.*685A>C
ENST00000641427.1:n.666A>C
ENST00000641511.1:c.398A>C
ENST00000641703.1:c.382A>C	ENSP00000493219.1:n.382A>C
ENST00000641709.1:c.*488A>C	ENSP00000493349.1:n.*488A>C
ENST00000641856.1:c.*1174A>C	ENSP00000493224.1:n.*1174A>C
ENST00000642017.2:c.666A>C MANE Select	ENSP00000493302.2:p.Gln222His
ENST00000225573.4:c.666A>C	ENSP00000225573.4:p.Gln222His
ENST00000434554.6:c.537A>C	ENSP00000399960.2:p.Gln179His
ENST00000582171.5:c.*331A>C	ENSP00000463994.1:n.*331A>C
ENST00000584806.1:n.335A>C
ENST00000585320.5:c.*148A>C	ENSP00000462345.1:n.*148A>C
NM_018129.3:c.666A>C	NP_060599.1:p.Gln222His
XM_005257500.2:c.426A>C	XP_005257557.1:p.Gln142His
XM_011524968.1:c.381A>C	XP_011523270.1:p.Gln127His
XM_005257500.3:c.426A>C	XP_005257557.1:p.Gln142His
XM_011524968.2:c.381A>C	XP_011523270.1:p.Gln127His
XM_017024813.1:c.426A>C	XP_016880302.1:p.Gln142His
NM_018129.4:c.666A>C MANE Select	NP_060599.1:p.Gln222His