Canonical Allele Identifier: CA400062865

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024066G>C (hg19) ; chr17:g.47946700G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946700G>C , CM000679.2:g.47946700G>C	GRCh38
NC_000017.10:g.46024066G>C , CM000679.1:g.46024066G>C	GRCh37
NC_000017.9:g.43379065G>C	NCBI36
NG_008744.1:g.10178G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000225573.5:c.575G>C	ENSP00000225573.5:p.Gly192Ala
ENST00000434554.7:c.650G>C	ENSP00000399960.3:p.Gly217Ala
ENST00000582171.6:c.*369G>C	ENSP00000463994.1:n.*369G>C
ENST00000583599.6:c.464G>C	ENSP00000463919.2:p.Gly155Ala
ENST00000584061.6:c.635G>C	ENSP00000463972.2:p.Gly212Ala
ENST00000584806.2:n.373G>C
ENST00000641285.1:n.484G>C
ENST00000641305.1:n.2203G>C
ENST00000641323.1:c.*723G>C	ENSP00000492965.1:n.*723G>C
ENST00000641427.1:n.704G>C
ENST00000641511.1:c.436G>C
ENST00000641703.1:c.420G>C	ENSP00000493219.1:n.420G>C
ENST00000641709.1:c.*526G>C	ENSP00000493349.1:n.*526G>C
ENST00000641856.1:c.*1212G>C	ENSP00000493224.1:n.*1212G>C
ENST00000642017.2:c.704G>C MANE Select	ENSP00000493302.2:p.Gly235Ala
ENST00000225573.4:c.704G>C	ENSP00000225573.4:p.Gly235Ala
ENST00000434554.6:c.575G>C	ENSP00000399960.2:p.Gly192Ala
ENST00000582171.5:c.*369G>C	ENSP00000463994.1:n.*369G>C
ENST00000584806.1:n.373G>C
ENST00000585320.5:c.*186G>C	ENSP00000462345.1:n.*186G>C
NM_018129.3:c.704G>C	NP_060599.1:p.Gly235Ala
XM_005257500.2:c.464G>C	XP_005257557.1:p.Gly155Ala
XM_011524968.1:c.419G>C	XP_011523270.1:p.Gly140Ala
XM_005257500.3:c.464G>C	XP_005257557.1:p.Gly155Ala
XM_011524968.2:c.419G>C	XP_011523270.1:p.Gly140Ala
XM_017024813.1:c.464G>C	XP_016880302.1:p.Gly155Ala
NM_018129.4:c.704G>C MANE Select	NP_060599.1:p.Gly235Ala