Canonical Allele Identifier: CA500454086

Gene: PNPO

Linked Data

• dbSNP Id: rs886937123
• gnomAD v3: 17-47946716-T-C
• gnomAD v4: 17-47946716-T-C
• MyVariant Identifiers: chr17:g.46024082T>C (hg19) ; chr17:g.47946716T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946716T>C , CM000679.2:g.47946716T>C	GRCh38
NC_000017.10:g.46024082T>C , CM000679.1:g.46024082T>C	GRCh37
NC_000017.9:g.43379081T>C	NCBI36
NG_008744.1:g.10194T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.591T>C	ENSP00000225573.5:p.Asp197=
ENST00000434554.7:c.666T>C	ENSP00000399960.3:p.Asp222=
ENST00000582171.6:c.*385T>C	ENSP00000463994.1:n.*385T>C
ENST00000583599.6:c.480T>C	ENSP00000463919.2:p.Asp160=
ENST00000584061.6:c.651T>C	ENSP00000463972.2:p.Asp217=
ENST00000584806.2:n.389T>C
ENST00000641305.1:n.2219T>C
ENST00000641323.1:c.*739T>C	ENSP00000492965.1:n.*739T>C
ENST00000641427.1:n.720T>C
ENST00000641511.1:c.452T>C
ENST00000641703.1:c.436T>C	ENSP00000493219.1:n.436T>C
ENST00000641709.1:c.*542T>C	ENSP00000493349.1:n.*542T>C
ENST00000641856.1:c.*1228T>C	ENSP00000493224.1:n.*1228T>C
ENST00000642017.2:c.720T>C MANE Select	ENSP00000493302.2:p.Asp240=
ENST00000225573.4:c.720T>C	ENSP00000225573.4:p.Asp240=
ENST00000434554.6:c.591T>C	ENSP00000399960.2:p.Asp197=
ENST00000582171.5:c.*385T>C	ENSP00000463994.1:n.*385T>C
ENST00000584806.1:n.389T>C
ENST00000585320.5:c.*202T>C	ENSP00000462345.1:n.*202T>C
NM_018129.3:c.720T>C	NP_060599.1:p.Asp240=
XM_005257500.2:c.480T>C	XP_005257557.1:p.Asp160=
XM_011524968.1:c.435T>C	XP_011523270.1:p.Asp145=
XM_005257500.3:c.480T>C	XP_005257557.1:p.Asp160=
XM_011524968.2:c.435T>C	XP_011523270.1:p.Asp145=
XM_017024813.1:c.480T>C	XP_016880302.1:p.Asp160=
NM_018129.4:c.720T>C MANE Select	NP_060599.1:p.Asp240=