Canonical Allele Identifier: CA500453192

Gene: PNPO

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946325T>C , CM000679.2:g.47946325T>C	GRCh38
NC_000017.10:g.46023691T>C , CM000679.1:g.46023691T>C	GRCh37
NC_000017.9:g.43378690T>C	NCBI36
NG_008744.1:g.9803T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_018129.4:c.549T>C MANE Select	NP_060599.1:p.Tyr183=
ENST00000642017.2:c.549T>C MANE Select	ENSP00000493302.2:p.Tyr183=
NM_018129.3:c.549T>C	NP_060599.1:p.Tyr183=
ENST00000225573.4:c.549T>C	ENSP00000225573.4:p.Tyr183=
ENST00000225573.5:c.420T>C	ENSP00000225573.5:p.Tyr140=
ENST00000434554.6:c.420T>C	ENSP00000399960.2:p.Tyr140=
ENST00000434554.7:c.495T>C	ENSP00000399960.3:p.Tyr165=
ENST00000582171.5:c.*214T>C	ENSP00000463994.1:n.*214T>C
ENST00000582171.6:c.*214T>C	ENSP00000463994.1:n.*214T>C
ENST00000583599.5:c.309T>C	ENSP00000463919.1:p.Tyr103=
ENST00000583599.6:c.309T>C	ENSP00000463919.2:p.Tyr103=
ENST00000584061.6:c.480T>C	ENSP00000463972.2:p.Tyr160=
ENST00000584806.1:n.218T>C
ENST00000584806.2:n.218T>C
ENST00000585320.5:c.*31T>C	ENSP00000462345.1:n.*31T>C
ENST00000641285.1:n.329T>C
ENST00000641305.1:n.2048T>C
ENST00000641323.1:c.*568T>C	ENSP00000492965.1:n.*568T>C
ENST00000641427.1:n.549T>C
ENST00000641511.1:c.281T>C
ENST00000641703.1:c.265T>C	ENSP00000493219.1:n.265T>C
ENST00000641709.1:c.*371T>C	ENSP00000493349.1:n.*371T>C
ENST00000641856.1:c.*1057T>C	ENSP00000493224.1:n.*1057T>C
XM_005257500.2:c.309T>C	XP_005257557.1:p.Tyr103=
XM_005257500.3:c.309T>C	XP_005257557.1:p.Tyr103=
XM_011524968.1:c.264T>C	XP_011523270.1:p.Tyr88=
XM_011524968.2:c.264T>C	XP_011523270.1:p.Tyr88=
XM_017024813.1:c.309T>C	XP_016880302.1:p.Tyr103=