Canonical Allele Identifier: CA400062238

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024010G>C (hg19) ; chr17:g.47946644G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946644G>C , CM000679.2:g.47946644G>C	GRCh38
NC_000017.10:g.46024010G>C , CM000679.1:g.46024010G>C	GRCh37
NC_000017.9:g.43379009G>C	NCBI36
NG_008744.1:g.10122G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.519G>C	ENSP00000225573.5:p.Met173Ile
ENST00000434554.7:c.594G>C	ENSP00000399960.3:p.Met198Ile
ENST00000582171.6:c.*313G>C	ENSP00000463994.1:n.*313G>C
ENST00000583599.6:c.408G>C	ENSP00000463919.2:p.Met136Ile
ENST00000584061.6:c.579G>C	ENSP00000463972.2:p.Met193Ile
ENST00000584806.2:n.317G>C
ENST00000641285.1:n.428G>C
ENST00000641305.1:n.2147G>C
ENST00000641323.1:c.*667G>C	ENSP00000492965.1:n.*667G>C
ENST00000641427.1:n.648G>C
ENST00000641511.1:c.380G>C
ENST00000641703.1:c.364G>C	ENSP00000493219.1:n.364G>C
ENST00000641709.1:c.*470G>C	ENSP00000493349.1:n.*470G>C
ENST00000641856.1:c.*1156G>C	ENSP00000493224.1:n.*1156G>C
ENST00000642017.2:c.648G>C MANE Select	ENSP00000493302.2:p.Met216Ile
ENST00000225573.4:c.648G>C	ENSP00000225573.4:p.Met216Ile
ENST00000434554.6:c.519G>C	ENSP00000399960.2:p.Met173Ile
ENST00000582171.5:c.*313G>C	ENSP00000463994.1:n.*313G>C
ENST00000584806.1:n.317G>C
ENST00000585320.5:c.*130G>C	ENSP00000462345.1:n.*130G>C
NM_018129.3:c.648G>C	NP_060599.1:p.Met216Ile
XM_005257500.2:c.408G>C	XP_005257557.1:p.Met136Ile
XM_011524968.1:c.363G>C	XP_011523270.1:p.Met121Ile
XM_005257500.3:c.408G>C	XP_005257557.1:p.Met136Ile
XM_011524968.2:c.363G>C	XP_011523270.1:p.Met121Ile
XM_017024813.1:c.408G>C	XP_016880302.1:p.Met136Ile
NM_018129.4:c.648G>C MANE Select	NP_060599.1:p.Met216Ile