Canonical Allele Identifier: CA2262900319
Community Standard Title: NM_018129.4(PNPO):c.471C= (p.Tyr157=)
Gene: PNPO HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.47945914C= , CM000679.2:g.47945914C= GRCh38
NC_000017.10:g.46023280C= , CM000679.1:g.46023280C= GRCh37
NC_000017.9:g.43378279C= NCBI36
NG_008744.1:g.9392C=

Transcript Alleles

HGVS Amino-acid Change
NM_018129.4:c.471C= MANE Select NP_060599.1:p.Tyr157=
ENST00000642017.2:c.471C= MANE Select ENSP00000493302.2:p.Tyr157=
NM_018129.3:c.471C= NP_060599.1:p.Tyr157=
ENST00000225573.4:c.471C= ENSP00000225573.4:p.Tyr157=
ENST00000225573.5:c.417+302C= ENSP00000225573.5:n.417+302C=
ENST00000434554.6:c.417+302C= ENSP00000399960.2:n.417+302C=
ENST00000434554.7:c.417C= ENSP00000399960.3:p.Tyr139=
ENST00000582171.5:c.*136C= ENSP00000463994.1:n.*136C=
ENST00000582171.6:c.*136C= ENSP00000463994.1:n.*136C=
ENST00000583245.5:c.*490C= ENSP00000463520.1:n.*490C=
ENST00000583245.6:n.443C=
ENST00000583599.5:c.231C= ENSP00000463919.1:p.Tyr77=
ENST00000583599.6:c.231C= ENSP00000463919.2:p.Tyr77=
ENST00000584061.6:c.402C= ENSP00000463972.2:p.Tyr134=
ENST00000584806.1:n.215+302C=
ENST00000584806.2:n.215+302C=
ENST00000585320.5:c.*29-409C= ENSP00000462345.1:n.*29-409C=
ENST00000641285.1:n.251C=
ENST00000641305.1:n.1637C=
ENST00000641323.1:c.*490C= ENSP00000492965.1:n.*490C=
ENST00000641427.1:n.471C=
ENST00000641511.1:c.279-409C=
ENST00000641703.1:c.187C= ENSP00000493219.1:n.187C=
ENST00000641709.1:c.*293C= ENSP00000493349.1:n.*293C=
ENST00000641856.1:c.*979C= ENSP00000493224.1:n.*979C=
XM_005257500.2:c.231C= XP_005257557.1:p.Tyr77=
XM_005257500.3:c.231C= XP_005257557.1:p.Tyr77=
XM_011524968.1:c.186C= XP_011523270.1:p.Tyr62=
XM_011524968.2:c.186C= XP_011523270.1:p.Tyr62=
XM_017024813.1:c.231C= XP_016880302.1:p.Tyr77=