Canonical Allele Identifier: CA2638499481

Gene: PNPO

Linked Data

• gnomAD v4: 17-47946786-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946786T>C , CM000679.2:g.47946786T>C	GRCh38
NC_000017.10:g.46024152T>C , CM000679.1:g.46024152T>C	GRCh37
NC_000017.9:g.43379151T>C	NCBI36
NG_008744.1:g.10264T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000225573.5:c.*4T>C	ENSP00000225573.5:n.*4T>C
ENST00000434554.7:c.*4T>C	ENSP00000399960.3:n.*4T>C
ENST00000582171.6:c.*455T>C	ENSP00000463994.1:n.*455T>C
ENST00000584061.6:c.721T>C	ENSP00000463972.2:n.721T>C
ENST00000584806.2:n.459T>C
ENST00000641305.1:n.2289T>C
ENST00000641323.1:c.*809T>C	ENSP00000492965.1:n.*809T>C
ENST00000641427.1:n.790T>C
ENST00000641703.1:c.506T>C	ENSP00000493219.1:n.506T>C
ENST00000641709.1:c.*612T>C	ENSP00000493349.1:n.*612T>C
ENST00000641856.1:c.*1298T>C	ENSP00000493224.1:n.*1298T>C
ENST00000642017.2:c.*4T>C MANE Select	ENSP00000493302.2:n.*4T>C
ENST00000225573.4:c.*4T>C	ENSP00000225573.4:n.*4T>C
ENST00000434554.6:c.*4T>C	ENSP00000399960.2:n.*4T>C
ENST00000582171.5:c.*455T>C	ENSP00000463994.1:n.*455T>C
ENST00000584806.1:n.459T>C
NM_018129.3:c.*4T>C	NP_060599.1:n.*4T>C
XM_005257500.2:c.*4T>C	XP_005257557.1:n.*4T>C
XM_011524968.1:c.*4T>C	XP_011523270.1:n.*4T>C
XM_005257500.3:c.*4T>C	XP_005257557.1:n.*4T>C
XM_011524968.2:c.*4T>C	XP_011523270.1:n.*4T>C
XM_017024813.1:c.*4T>C	XP_016880302.1:n.*4T>C
NM_018129.4:c.*4T>C MANE Select	NP_060599.1:n.*4T>C