Canonical Allele Identifier: CA500454248

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024134A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946768A>C , CM000679.2:g.47946768A>C	GRCh38
NC_000017.10:g.46024134A>C , CM000679.1:g.46024134A>C	GRCh37
NC_000017.9:g.43379133A>C	NCBI36
NG_008744.1:g.10246A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.643A>C	ENSP00000225573.5:p.Arg215=
ENST00000434554.7:c.718A>C	ENSP00000399960.3:p.Arg240=
ENST00000582171.6:c.*437A>C	ENSP00000463994.1:n.*437A>C
ENST00000584061.6:c.703A>C	ENSP00000463972.2:p.Arg235=
ENST00000584806.2:n.441A>C
ENST00000641305.1:n.2271A>C
ENST00000641323.1:c.*791A>C	ENSP00000492965.1:n.*791A>C
ENST00000641427.1:n.772A>C
ENST00000641703.1:c.488A>C	ENSP00000493219.1:n.488A>C
ENST00000641709.1:c.*594A>C	ENSP00000493349.1:n.*594A>C
ENST00000641856.1:c.*1280A>C	ENSP00000493224.1:n.*1280A>C
ENST00000642017.2:c.772A>C MANE Select	ENSP00000493302.2:p.Arg258=
ENST00000225573.4:c.772A>C	ENSP00000225573.4:p.Arg258=
ENST00000434554.6:c.643A>C	ENSP00000399960.2:p.Arg215=
ENST00000582171.5:c.*437A>C	ENSP00000463994.1:n.*437A>C
ENST00000584806.1:n.441A>C
NM_018129.3:c.772A>C	NP_060599.1:p.Arg258=
XM_005257500.2:c.532A>C	XP_005257557.1:p.Arg178=
XM_011524968.1:c.487A>C	XP_011523270.1:p.Arg163=
XM_005257500.3:c.532A>C	XP_005257557.1:p.Arg178=
XM_011524968.2:c.487A>C	XP_011523270.1:p.Arg163=
XM_017024813.1:c.532A>C	XP_016880302.1:p.Arg178=
NM_018129.4:c.772A>C MANE Select	NP_060599.1:p.Arg258=