Canonical Allele Identifier: CA400062219

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024008A>C (hg19) ; chr17:g.47946642A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946642A>C , CM000679.2:g.47946642A>C	GRCh38
NC_000017.10:g.46024008A>C , CM000679.1:g.46024008A>C	GRCh37
NC_000017.9:g.43379007A>C	NCBI36
NG_008744.1:g.10120A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.517A>C	ENSP00000225573.5:p.Met173Leu
ENST00000434554.7:c.592A>C	ENSP00000399960.3:p.Met198Leu
ENST00000582171.6:c.*311A>C	ENSP00000463994.1:n.*311A>C
ENST00000583599.6:c.406A>C	ENSP00000463919.2:p.Met136Leu
ENST00000584061.6:c.577A>C	ENSP00000463972.2:p.Met193Leu
ENST00000584806.2:n.315A>C
ENST00000641285.1:n.426A>C
ENST00000641305.1:n.2145A>C
ENST00000641323.1:c.*665A>C	ENSP00000492965.1:n.*665A>C
ENST00000641427.1:n.646A>C
ENST00000641511.1:c.378A>C
ENST00000641703.1:c.362A>C	ENSP00000493219.1:n.362A>C
ENST00000641709.1:c.*468A>C	ENSP00000493349.1:n.*468A>C
ENST00000641856.1:c.*1154A>C	ENSP00000493224.1:n.*1154A>C
ENST00000642017.2:c.646A>C MANE Select	ENSP00000493302.2:p.Met216Leu
ENST00000225573.4:c.646A>C	ENSP00000225573.4:p.Met216Leu
ENST00000434554.6:c.517A>C	ENSP00000399960.2:p.Met173Leu
ENST00000582171.5:c.*311A>C	ENSP00000463994.1:n.*311A>C
ENST00000584806.1:n.315A>C
ENST00000585320.5:c.*128A>C	ENSP00000462345.1:n.*128A>C
NM_018129.3:c.646A>C	NP_060599.1:p.Met216Leu
XM_005257500.2:c.406A>C	XP_005257557.1:p.Met136Leu
XM_011524968.1:c.361A>C	XP_011523270.1:p.Met121Leu
XM_005257500.3:c.406A>C	XP_005257557.1:p.Met136Leu
XM_011524968.2:c.361A>C	XP_011523270.1:p.Met121Leu
XM_017024813.1:c.406A>C	XP_016880302.1:p.Met136Leu
NM_018129.4:c.646A>C MANE Select	NP_060599.1:p.Met216Leu