Canonical Allele Identifier: CA400062110

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46023997A>G (hg19) ; chr17:g.47946631A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946631A>G , CM000679.2:g.47946631A>G	GRCh38
NC_000017.10:g.46023997A>G , CM000679.1:g.46023997A>G	GRCh37
NC_000017.9:g.43378996A>G	NCBI36
NG_008744.1:g.10109A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.506A>G	ENSP00000225573.5:p.Tyr169Cys
ENST00000434554.7:c.581A>G	ENSP00000399960.3:p.Tyr194Cys
ENST00000582171.6:c.*300A>G	ENSP00000463994.1:n.*300A>G
ENST00000583599.6:c.395A>G	ENSP00000463919.2:p.Tyr132Cys
ENST00000584061.6:c.566A>G	ENSP00000463972.2:p.Tyr189Cys
ENST00000584806.2:n.304A>G
ENST00000641285.1:n.415A>G
ENST00000641305.1:n.2134A>G
ENST00000641323.1:c.*654A>G	ENSP00000492965.1:n.*654A>G
ENST00000641427.1:n.635A>G
ENST00000641511.1:c.367A>G
ENST00000641703.1:c.351A>G	ENSP00000493219.1:n.351A>G
ENST00000641709.1:c.*457A>G	ENSP00000493349.1:n.*457A>G
ENST00000641856.1:c.*1143A>G	ENSP00000493224.1:n.*1143A>G
ENST00000642017.2:c.635A>G MANE Select	ENSP00000493302.2:p.Tyr212Cys
ENST00000225573.4:c.635A>G	ENSP00000225573.4:p.Tyr212Cys
ENST00000434554.6:c.506A>G	ENSP00000399960.2:p.Tyr169Cys
ENST00000582171.5:c.*300A>G	ENSP00000463994.1:n.*300A>G
ENST00000584806.1:n.304A>G
ENST00000585320.5:c.*117A>G	ENSP00000462345.1:n.*117A>G
NM_018129.3:c.635A>G	NP_060599.1:p.Tyr212Cys
XM_005257500.2:c.395A>G	XP_005257557.1:p.Tyr132Cys
XM_011524968.1:c.350A>G	XP_011523270.1:p.Tyr117Cys
XM_005257500.3:c.395A>G	XP_005257557.1:p.Tyr132Cys
XM_011524968.2:c.350A>G	XP_011523270.1:p.Tyr117Cys
XM_017024813.1:c.395A>G	XP_016880302.1:p.Tyr132Cys
NM_018129.4:c.635A>G MANE Select	NP_060599.1:p.Tyr212Cys