Canonical Allele Identifier: CA400063841

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024143C>A (hg19) ; chr17:g.47946777C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946777C>A , CM000679.2:g.47946777C>A	GRCh38
NC_000017.10:g.46024143C>A , CM000679.1:g.46024143C>A	GRCh37
NC_000017.9:g.43379142C>A	NCBI36
NG_008744.1:g.10255C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.652C>A	ENSP00000225573.5:p.Pro218Thr
ENST00000434554.7:c.727C>A	ENSP00000399960.3:p.Pro243Thr
ENST00000582171.6:c.*446C>A	ENSP00000463994.1:n.*446C>A
ENST00000584061.6:c.712C>A	ENSP00000463972.2:p.Pro238Thr
ENST00000584806.2:n.450C>A
ENST00000641305.1:n.2280C>A
ENST00000641323.1:c.*800C>A	ENSP00000492965.1:n.*800C>A
ENST00000641427.1:n.781C>A
ENST00000641703.1:c.497C>A	ENSP00000493219.1:n.497C>A
ENST00000641709.1:c.*603C>A	ENSP00000493349.1:n.*603C>A
ENST00000641856.1:c.*1289C>A	ENSP00000493224.1:n.*1289C>A
ENST00000642017.2:c.781C>A MANE Select	ENSP00000493302.2:p.Pro261Thr
ENST00000225573.4:c.781C>A	ENSP00000225573.4:p.Pro261Thr
ENST00000434554.6:c.652C>A	ENSP00000399960.2:p.Pro218Thr
ENST00000582171.5:c.*446C>A	ENSP00000463994.1:n.*446C>A
ENST00000584806.1:n.450C>A
NM_018129.3:c.781C>A	NP_060599.1:p.Pro261Thr
XM_005257500.2:c.541C>A	XP_005257557.1:p.Pro181Thr
XM_011524968.1:c.496C>A	XP_011523270.1:p.Pro166Thr
XM_005257500.3:c.541C>A	XP_005257557.1:p.Pro181Thr
XM_011524968.2:c.496C>A	XP_011523270.1:p.Pro166Thr
XM_017024813.1:c.541C>A	XP_016880302.1:p.Pro181Thr
NM_018129.4:c.781C>A MANE Select	NP_060599.1:p.Pro261Thr