Canonical Allele Identifier: CA400063634

Gene: PNPO

Linked Data

• MyVariant Identifiers: chr17:g.46024130T>G (hg19) ; chr17:g.47946764T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946764T>G , CM000679.2:g.47946764T>G	GRCh38
NC_000017.10:g.46024130T>G , CM000679.1:g.46024130T>G	GRCh37
NC_000017.9:g.43379129T>G	NCBI36
NG_008744.1:g.10242T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.639T>G	ENSP00000225573.5:p.Tyr213Ter
ENST00000434554.7:c.714T>G	ENSP00000399960.3:p.Tyr238Ter
ENST00000582171.6:c.*433T>G	ENSP00000463994.1:n.*433T>G
ENST00000584061.6:c.699T>G	ENSP00000463972.2:p.Tyr233Ter
ENST00000584806.2:n.437T>G
ENST00000641305.1:n.2267T>G
ENST00000641323.1:c.*787T>G	ENSP00000492965.1:n.*787T>G
ENST00000641427.1:n.768T>G
ENST00000641703.1:c.484T>G	ENSP00000493219.1:n.484T>G
ENST00000641709.1:c.*590T>G	ENSP00000493349.1:n.*590T>G
ENST00000641856.1:c.*1276T>G	ENSP00000493224.1:n.*1276T>G
ENST00000642017.2:c.768T>G MANE Select	ENSP00000493302.2:p.Tyr256Ter
ENST00000225573.4:c.768T>G	ENSP00000225573.4:p.Tyr256Ter
ENST00000434554.6:c.639T>G	ENSP00000399960.2:p.Tyr213Ter
ENST00000582171.5:c.*433T>G	ENSP00000463994.1:n.*433T>G
ENST00000584806.1:n.437T>G
NM_018129.3:c.768T>G	NP_060599.1:p.Tyr256Ter
XM_005257500.2:c.528T>G	XP_005257557.1:p.Tyr176Ter
XM_011524968.1:c.483T>G	XP_011523270.1:p.Tyr161Ter
XM_005257500.3:c.528T>G	XP_005257557.1:p.Tyr176Ter
XM_011524968.2:c.483T>G	XP_011523270.1:p.Tyr161Ter
XM_017024813.1:c.528T>G	XP_016880302.1:p.Tyr176Ter
NM_018129.4:c.768T>G MANE Select	NP_060599.1:p.Tyr256Ter