Canonical Allele Identifier: CA400062574

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024039T>A (hg19) ; chr17:g.47946673T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946673T>A , CM000679.2:g.47946673T>A	GRCh38
NC_000017.10:g.46024039T>A , CM000679.1:g.46024039T>A	GRCh37
NC_000017.9:g.43379038T>A	NCBI36
NG_008744.1:g.10151T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000225573.5:c.548T>A	ENSP00000225573.5:p.Leu183Gln
ENST00000434554.7:c.623T>A	ENSP00000399960.3:p.Leu208Gln
ENST00000582171.6:c.*342T>A	ENSP00000463994.1:n.*342T>A
ENST00000583599.6:c.437T>A	ENSP00000463919.2:p.Leu146Gln
ENST00000584061.6:c.608T>A	ENSP00000463972.2:p.Leu203Gln
ENST00000584806.2:n.346T>A
ENST00000641285.1:n.457T>A
ENST00000641305.1:n.2176T>A
ENST00000641323.1:c.*696T>A	ENSP00000492965.1:n.*696T>A
ENST00000641427.1:n.677T>A
ENST00000641511.1:c.409T>A
ENST00000641703.1:c.393T>A	ENSP00000493219.1:n.393T>A
ENST00000641709.1:c.*499T>A	ENSP00000493349.1:n.*499T>A
ENST00000641856.1:c.*1185T>A	ENSP00000493224.1:n.*1185T>A
ENST00000642017.2:c.677T>A MANE Select	ENSP00000493302.2:p.Leu226Gln
ENST00000225573.4:c.677T>A	ENSP00000225573.4:p.Leu226Gln
ENST00000434554.6:c.548T>A	ENSP00000399960.2:p.Leu183Gln
ENST00000582171.5:c.*342T>A	ENSP00000463994.1:n.*342T>A
ENST00000584806.1:n.346T>A
ENST00000585320.5:c.*159T>A	ENSP00000462345.1:n.*159T>A
NM_018129.3:c.677T>A	NP_060599.1:p.Leu226Gln
XM_005257500.2:c.437T>A	XP_005257557.1:p.Leu146Gln
XM_011524968.1:c.392T>A	XP_011523270.1:p.Leu131Gln
XM_005257500.3:c.437T>A	XP_005257557.1:p.Leu146Gln
XM_011524968.2:c.392T>A	XP_011523270.1:p.Leu131Gln
XM_017024813.1:c.437T>A	XP_016880302.1:p.Leu146Gln
NM_018129.4:c.677T>A MANE Select	NP_060599.1:p.Leu226Gln