Canonical Allele Identifier: CA291293046
Community Standard Title: NM_018129.4(PNPO):c.16C>A (p.Arg6=)
Gene: PNPO HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47941691C>A , CM000679.2:g.47941691C>A GRCh38
NC_000017.10:g.46019057C>A , CM000679.1:g.46019057C>A GRCh37
NC_000017.9:g.43374056C>A NCBI36
NG_008744.1:g.5169C>A

Transcript Alleles

HGVS Amino-acid Change
NM_018129.4:c.16C>A MANE Select NP_060599.1:p.Arg6=
ENST00000642017.2:c.16C>A MANE Select ENSP00000493302.2:p.Arg6=
NM_018129.3:c.16C>A NP_060599.1:p.Arg6=
ENST00000225573.4:c.16C>A ENSP00000225573.4:p.Arg6=
ENST00000225573.5:c.16C>A ENSP00000225573.5:p.Arg6=
ENST00000434554.6:c.16C>A ENSP00000399960.2:p.Arg6=
ENST00000434554.7:c.16C>A ENSP00000399960.3:p.Arg6=
ENST00000582171.5:c.16C>A ENSP00000463994.1:p.Arg6=
ENST00000582171.6:c.16C>A ENSP00000463994.1:p.Arg6=
ENST00000583245.5:c.16C>A ENSP00000463520.1:p.Arg6=
ENST00000583599.5:c.-103+89C>A ENSP00000463919.1:n.-103+89C>A
ENST00000583599.6:c.-103+89C>A ENSP00000463919.2:n.-103+89C>A
ENST00000584061.5:c.16C>A ENSP00000463972.1:p.Arg6=
ENST00000585320.5:c.16C>A ENSP00000462345.1:p.Arg6=
ENST00000641305.1:n.91C>A
ENST00000641323.1:c.16C>A ENSP00000492965.1:p.Arg6=
ENST00000641709.1:c.16C>A ENSP00000493349.1:p.Arg6=
ENST00000641856.1:c.16C>A ENSP00000493224.1:p.Arg6=
XM_005257500.2:c.-463C>A XP_005257557.1:n.-463C>A
XM_005257500.3:c.-463C>A XP_005257557.1:n.-463C>A
XM_011524968.1:c.-145C>A XP_011523270.1:n.-145C>A
XM_011524968.2:c.-145C>A XP_011523270.1:n.-145C>A
XM_017024813.1:c.-103+89C>A XP_016880302.1:n.-103+89C>A