Canonical Allele Identifier: CA400062382

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024023G>T (hg19) ; chr17:g.47946657G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946657G>T , CM000679.2:g.47946657G>T	GRCh38
NC_000017.10:g.46024023G>T , CM000679.1:g.46024023G>T	GRCh37
NC_000017.9:g.43379022G>T	NCBI36
NG_008744.1:g.10135G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.532G>T	ENSP00000225573.5:p.Gly178Cys
ENST00000434554.7:c.607G>T	ENSP00000399960.3:p.Gly203Cys
ENST00000582171.6:c.*326G>T	ENSP00000463994.1:n.*326G>T
ENST00000583599.6:c.421G>T	ENSP00000463919.2:p.Gly141Cys
ENST00000584061.6:c.592G>T	ENSP00000463972.2:p.Gly198Cys
ENST00000584806.2:n.330G>T
ENST00000641285.1:n.441G>T
ENST00000641305.1:n.2160G>T
ENST00000641323.1:c.*680G>T	ENSP00000492965.1:n.*680G>T
ENST00000641427.1:n.661G>T
ENST00000641511.1:c.393G>T
ENST00000641703.1:c.377G>T	ENSP00000493219.1:n.377G>T
ENST00000641709.1:c.*483G>T	ENSP00000493349.1:n.*483G>T
ENST00000641856.1:c.*1169G>T	ENSP00000493224.1:n.*1169G>T
ENST00000642017.2:c.661G>T MANE Select	ENSP00000493302.2:p.Gly221Cys
ENST00000225573.4:c.661G>T	ENSP00000225573.4:p.Gly221Cys
ENST00000434554.6:c.532G>T	ENSP00000399960.2:p.Gly178Cys
ENST00000582171.5:c.*326G>T	ENSP00000463994.1:n.*326G>T
ENST00000584806.1:n.330G>T
ENST00000585320.5:c.*143G>T	ENSP00000462345.1:n.*143G>T
NM_018129.3:c.661G>T	NP_060599.1:p.Gly221Cys
XM_005257500.2:c.421G>T	XP_005257557.1:p.Gly141Cys
XM_011524968.1:c.376G>T	XP_011523270.1:p.Gly126Cys
XM_005257500.3:c.421G>T	XP_005257557.1:p.Gly141Cys
XM_011524968.2:c.376G>T	XP_011523270.1:p.Gly126Cys
XM_017024813.1:c.421G>T	XP_016880302.1:p.Gly141Cys
NM_018129.4:c.661G>T MANE Select	NP_060599.1:p.Gly221Cys