Canonical Allele Identifier: CA400062232

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024009T>G (hg19) ; chr17:g.47946643T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946643T>G , CM000679.2:g.47946643T>G	GRCh38
NC_000017.10:g.46024009T>G , CM000679.1:g.46024009T>G	GRCh37
NC_000017.9:g.43379008T>G	NCBI36
NG_008744.1:g.10121T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.518T>G	ENSP00000225573.5:p.Met173Arg
ENST00000434554.7:c.593T>G	ENSP00000399960.3:p.Met198Arg
ENST00000582171.6:c.*312T>G	ENSP00000463994.1:n.*312T>G
ENST00000583599.6:c.407T>G	ENSP00000463919.2:p.Met136Arg
ENST00000584061.6:c.578T>G	ENSP00000463972.2:p.Met193Arg
ENST00000584806.2:n.316T>G
ENST00000641285.1:n.427T>G
ENST00000641305.1:n.2146T>G
ENST00000641323.1:c.*666T>G	ENSP00000492965.1:n.*666T>G
ENST00000641427.1:n.647T>G
ENST00000641511.1:c.379T>G
ENST00000641703.1:c.363T>G	ENSP00000493219.1:n.363T>G
ENST00000641709.1:c.*469T>G	ENSP00000493349.1:n.*469T>G
ENST00000641856.1:c.*1155T>G	ENSP00000493224.1:n.*1155T>G
ENST00000642017.2:c.647T>G MANE Select	ENSP00000493302.2:p.Met216Arg
ENST00000225573.4:c.647T>G	ENSP00000225573.4:p.Met216Arg
ENST00000434554.6:c.518T>G	ENSP00000399960.2:p.Met173Arg
ENST00000582171.5:c.*312T>G	ENSP00000463994.1:n.*312T>G
ENST00000584806.1:n.316T>G
ENST00000585320.5:c.*129T>G	ENSP00000462345.1:n.*129T>G
NM_018129.3:c.647T>G	NP_060599.1:p.Met216Arg
XM_005257500.2:c.407T>G	XP_005257557.1:p.Met136Arg
XM_011524968.1:c.362T>G	XP_011523270.1:p.Met121Arg
XM_005257500.3:c.407T>G	XP_005257557.1:p.Met136Arg
XM_011524968.2:c.362T>G	XP_011523270.1:p.Met121Arg
XM_017024813.1:c.407T>G	XP_016880302.1:p.Met136Arg
NM_018129.4:c.647T>G MANE Select	NP_060599.1:p.Met216Arg