Canonical Allele Identifier: CA400063906

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024148A>T (hg19) ; chr17:g.47946782A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946782A>T , CM000679.2:g.47946782A>T	GRCh38
NC_000017.10:g.46024148A>T , CM000679.1:g.46024148A>T	GRCh37
NC_000017.9:g.43379147A>T	NCBI36
NG_008744.1:g.10260A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000225573.5:c.657A>T	ENSP00000225573.5:p.Ter219Tyr
ENST00000434554.7:c.732A>T	ENSP00000399960.3:p.Ter244Tyr
ENST00000582171.6:c.*451A>T	ENSP00000463994.1:n.*451A>T
ENST00000584061.6:c.717A>T	ENSP00000463972.2:p.Ter239Tyr
ENST00000584806.2:n.455A>T
ENST00000641305.1:n.2285A>T
ENST00000641323.1:c.*805A>T	ENSP00000492965.1:n.*805A>T
ENST00000641427.1:n.786A>T
ENST00000641703.1:c.502A>T	ENSP00000493219.1:n.502A>T
ENST00000641709.1:c.*608A>T	ENSP00000493349.1:n.*608A>T
ENST00000641856.1:c.*1294A>T	ENSP00000493224.1:n.*1294A>T
ENST00000642017.2:c.786A>T MANE Select	ENSP00000493302.2:p.Ter262Tyr
ENST00000225573.4:c.786A>T	ENSP00000225573.4:p.Ter262Tyr
ENST00000434554.6:c.657A>T	ENSP00000399960.2:p.Ter219Tyr
ENST00000582171.5:c.*451A>T	ENSP00000463994.1:n.*451A>T
ENST00000584806.1:n.455A>T
NM_018129.3:c.786A>T	NP_060599.1:p.Ter262Tyr
XM_005257500.2:c.546A>T	XP_005257557.1:p.Ter182Tyr
XM_011524968.1:c.501A>T	XP_011523270.1:p.Ter167Tyr
XM_005257500.3:c.546A>T	XP_005257557.1:p.Ter182Tyr
XM_011524968.2:c.501A>T	XP_011523270.1:p.Ter167Tyr
XM_017024813.1:c.546A>T	XP_016880302.1:p.Ter182Tyr
NM_018129.4:c.786A>T MANE Select	NP_060599.1:p.Ter262Tyr