Canonical Allele Identifier: CA291297382

Gene: PNPO

Linked Data

• dbSNP Id: rs1006267889
• gnomAD v4: 17-47946880-C-T
• MyVariant Identifiers: chr17:g.46024246C>T (hg19) ; chr17:g.47946880C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946880C>T , CM000679.2:g.47946880C>T	GRCh38
NC_000017.10:g.46024246C>T , CM000679.1:g.46024246C>T	GRCh37
NC_000017.9:g.43379245C>T	NCBI36
NG_008744.1:g.10358C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.*98C>T	ENSP00000225573.5:n.*98C>T
ENST00000434554.7:c.*98C>T	ENSP00000399960.3:n.*98C>T
ENST00000582171.6:c.*549C>T	ENSP00000463994.1:n.*549C>T
ENST00000584806.2:n.553C>T
ENST00000641305.1:n.2383C>T
ENST00000641323.1:c.*903C>T	ENSP00000492965.1:n.*903C>T
ENST00000641427.1:n.884C>T
ENST00000641703.1:c.600C>T	ENSP00000493219.1:n.600C>T
ENST00000641709.1:c.*706C>T	ENSP00000493349.1:n.*706C>T
ENST00000641856.1:c.*1392C>T	ENSP00000493224.1:n.*1392C>T
ENST00000642017.2:c.*98C>T MANE Select	ENSP00000493302.2:n.*98C>T
ENST00000225573.4:c.*98C>T	ENSP00000225573.4:n.*98C>T
ENST00000434554.6:c.*98C>T	ENSP00000399960.2:n.*98C>T
ENST00000582171.5:c.*549C>T	ENSP00000463994.1:n.*549C>T
NM_018129.3:c.*98C>T	NP_060599.1:n.*98C>T
XM_005257500.2:c.*98C>T	XP_005257557.1:n.*98C>T
XM_011524968.1:c.*98C>T	XP_011523270.1:n.*98C>T
XM_005257500.3:c.*98C>T	XP_005257557.1:n.*98C>T
XM_011524968.2:c.*98C>T	XP_011523270.1:n.*98C>T
XM_017024813.1:c.*98C>T	XP_016880302.1:n.*98C>T
NM_018129.4:c.*98C>T MANE Select	NP_060599.1:n.*98C>T