Canonical Allele Identifier: CA400063237

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024095C>A (hg19) ; chr17:g.47946729C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946729C>A , CM000679.2:g.47946729C>A	GRCh38
NC_000017.10:g.46024095C>A , CM000679.1:g.46024095C>A	GRCh37
NC_000017.9:g.43379094C>A	NCBI36
NG_008744.1:g.10207C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.604C>A	ENSP00000225573.5:p.Pro202Thr
ENST00000434554.7:c.679C>A	ENSP00000399960.3:p.Pro227Thr
ENST00000582171.6:c.*398C>A	ENSP00000463994.1:n.*398C>A
ENST00000583599.6:c.493C>A	ENSP00000463919.2:p.Pro165Thr
ENST00000584061.6:c.664C>A	ENSP00000463972.2:p.Pro222Thr
ENST00000584806.2:n.402C>A
ENST00000641305.1:n.2232C>A
ENST00000641323.1:c.*752C>A	ENSP00000492965.1:n.*752C>A
ENST00000641427.1:n.733C>A
ENST00000641703.1:c.449C>A	ENSP00000493219.1:n.449C>A
ENST00000641709.1:c.*555C>A	ENSP00000493349.1:n.*555C>A
ENST00000641856.1:c.*1241C>A	ENSP00000493224.1:n.*1241C>A
ENST00000642017.2:c.733C>A MANE Select	ENSP00000493302.2:p.Pro245Thr
ENST00000225573.4:c.733C>A	ENSP00000225573.4:p.Pro245Thr
ENST00000434554.6:c.604C>A	ENSP00000399960.2:p.Pro202Thr
ENST00000582171.5:c.*398C>A	ENSP00000463994.1:n.*398C>A
ENST00000584806.1:n.402C>A
ENST00000585320.5:c.*215C>A	ENSP00000462345.1:n.*215C>A
NM_018129.3:c.733C>A	NP_060599.1:p.Pro245Thr
XM_005257500.2:c.493C>A	XP_005257557.1:p.Pro165Thr
XM_011524968.1:c.448C>A	XP_011523270.1:p.Pro150Thr
XM_005257500.3:c.493C>A	XP_005257557.1:p.Pro165Thr
XM_011524968.2:c.448C>A	XP_011523270.1:p.Pro150Thr
XM_017024813.1:c.493C>A	XP_016880302.1:p.Pro165Thr
NM_018129.4:c.733C>A MANE Select	NP_060599.1:p.Pro245Thr