Canonical Allele Identifier: CA500454167

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024106C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946740C>T , CM000679.2:g.47946740C>T	GRCh38
NC_000017.10:g.46024106C>T , CM000679.1:g.46024106C>T	GRCh37
NC_000017.9:g.43379105C>T	NCBI36
NG_008744.1:g.10218C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.615C>T	ENSP00000225573.5:p.His205=
ENST00000434554.7:c.690C>T	ENSP00000399960.3:p.His230=
ENST00000582171.6:c.*409C>T	ENSP00000463994.1:n.*409C>T
ENST00000584061.6:c.675C>T	ENSP00000463972.2:p.His225=
ENST00000584806.2:n.413C>T
ENST00000641305.1:n.2243C>T
ENST00000641323.1:c.*763C>T	ENSP00000492965.1:n.*763C>T
ENST00000641427.1:n.744C>T
ENST00000641703.1:c.460C>T	ENSP00000493219.1:n.460C>T
ENST00000641709.1:c.*566C>T	ENSP00000493349.1:n.*566C>T
ENST00000641856.1:c.*1252C>T	ENSP00000493224.1:n.*1252C>T
ENST00000642017.2:c.744C>T MANE Select	ENSP00000493302.2:p.His248=
ENST00000225573.4:c.744C>T	ENSP00000225573.4:p.His248=
ENST00000434554.6:c.615C>T	ENSP00000399960.2:p.His205=
ENST00000582171.5:c.*409C>T	ENSP00000463994.1:n.*409C>T
ENST00000584806.1:n.413C>T
ENST00000585320.5:c.*226C>T	ENSP00000462345.1:n.*226C>T
NM_018129.3:c.744C>T	NP_060599.1:p.His248=
XM_005257500.2:c.504C>T	XP_005257557.1:p.His168=
XM_011524968.1:c.459C>T	XP_011523270.1:p.His153=
XM_005257500.3:c.504C>T	XP_005257557.1:p.His168=
XM_011524968.2:c.459C>T	XP_011523270.1:p.His153=
XM_017024813.1:c.504C>T	XP_016880302.1:p.His168=
NM_018129.4:c.744C>T MANE Select	NP_060599.1:p.His248=