Canonical Allele Identifier: CA400063238

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024096C>A (hg19) ; chr17:g.47946730C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946730C>A , CM000679.2:g.47946730C>A	GRCh38
NC_000017.10:g.46024096C>A , CM000679.1:g.46024096C>A	GRCh37
NC_000017.9:g.43379095C>A	NCBI36
NG_008744.1:g.10208C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.605C>A	ENSP00000225573.5:p.Pro202His
ENST00000434554.7:c.680C>A	ENSP00000399960.3:p.Pro227His
ENST00000582171.6:c.*399C>A	ENSP00000463994.1:n.*399C>A
ENST00000583599.6:c.494C>A	ENSP00000463919.2:p.Pro165His
ENST00000584061.6:c.665C>A	ENSP00000463972.2:p.Pro222His
ENST00000584806.2:n.403C>A
ENST00000641305.1:n.2233C>A
ENST00000641323.1:c.*753C>A	ENSP00000492965.1:n.*753C>A
ENST00000641427.1:n.734C>A
ENST00000641703.1:c.450C>A	ENSP00000493219.1:n.450C>A
ENST00000641709.1:c.*556C>A	ENSP00000493349.1:n.*556C>A
ENST00000641856.1:c.*1242C>A	ENSP00000493224.1:n.*1242C>A
ENST00000642017.2:c.734C>A MANE Select	ENSP00000493302.2:p.Pro245His
ENST00000225573.4:c.734C>A	ENSP00000225573.4:p.Pro245His
ENST00000434554.6:c.605C>A	ENSP00000399960.2:p.Pro202His
ENST00000582171.5:c.*399C>A	ENSP00000463994.1:n.*399C>A
ENST00000584806.1:n.403C>A
ENST00000585320.5:c.*216C>A	ENSP00000462345.1:n.*216C>A
NM_018129.3:c.734C>A	NP_060599.1:p.Pro245His
XM_005257500.2:c.494C>A	XP_005257557.1:p.Pro165His
XM_011524968.1:c.449C>A	XP_011523270.1:p.Pro150His
XM_005257500.3:c.494C>A	XP_005257557.1:p.Pro165His
XM_011524968.2:c.449C>A	XP_011523270.1:p.Pro150His
XM_017024813.1:c.494C>A	XP_016880302.1:p.Pro165His
NM_018129.4:c.734C>A MANE Select	NP_060599.1:p.Pro245His