Canonical Allele Identifier: CA500454024

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024064G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946698G>C , CM000679.2:g.47946698G>C	GRCh38
NC_000017.10:g.46024064G>C , CM000679.1:g.46024064G>C	GRCh37
NC_000017.9:g.43379063G>C	NCBI36
NG_008744.1:g.10176G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.573G>C	ENSP00000225573.5:p.Arg191=
ENST00000434554.7:c.648G>C	ENSP00000399960.3:p.Arg216=
ENST00000582171.6:c.*367G>C	ENSP00000463994.1:n.*367G>C
ENST00000583599.6:c.462G>C	ENSP00000463919.2:p.Arg154=
ENST00000584061.6:c.633G>C	ENSP00000463972.2:p.Arg211=
ENST00000584806.2:n.371G>C
ENST00000641285.1:n.482G>C
ENST00000641305.1:n.2201G>C
ENST00000641323.1:c.*721G>C	ENSP00000492965.1:n.*721G>C
ENST00000641427.1:n.702G>C
ENST00000641511.1:c.434G>C
ENST00000641703.1:c.418G>C	ENSP00000493219.1:n.418G>C
ENST00000641709.1:c.*524G>C	ENSP00000493349.1:n.*524G>C
ENST00000641856.1:c.*1210G>C	ENSP00000493224.1:n.*1210G>C
ENST00000642017.2:c.702G>C MANE Select	ENSP00000493302.2:p.Arg234=
ENST00000225573.4:c.702G>C	ENSP00000225573.4:p.Arg234=
ENST00000434554.6:c.573G>C	ENSP00000399960.2:p.Arg191=
ENST00000582171.5:c.*367G>C	ENSP00000463994.1:n.*367G>C
ENST00000584806.1:n.371G>C
ENST00000585320.5:c.*184G>C	ENSP00000462345.1:n.*184G>C
NM_018129.3:c.702G>C	NP_060599.1:p.Arg234=
XM_005257500.2:c.462G>C	XP_005257557.1:p.Arg154=
XM_011524968.1:c.417G>C	XP_011523270.1:p.Arg139=
XM_005257500.3:c.462G>C	XP_005257557.1:p.Arg154=
XM_011524968.2:c.417G>C	XP_011523270.1:p.Arg139=
XM_017024813.1:c.462G>C	XP_016880302.1:p.Arg154=
NM_018129.4:c.702G>C MANE Select	NP_060599.1:p.Arg234=