Canonical Allele Identifier: CA316576

Gene: PNPO

Linked Data

• ClinVar Variation Id: 206456
• ClinVar RCV Id: RCV000188504 ; RCV002514031
• dbSNP Id: rs796052870
• gnomAD v3: 17-47941677-T-C
• gnomAD v4: 17-47941677-T-C
• MyVariant Identifiers: chr17:g.46019043T>C (hg19) ; chr17:g.47941677T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47941677T>C , CM000679.2:g.47941677T>C	GRCh38
NC_000017.10:g.46019043T>C , CM000679.1:g.46019043T>C	GRCh37
NC_000017.9:g.43374042T>C	NCBI36
NG_008744.1:g.5155T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.2T>C	ENSP00000225573.5:p.Met1Thr
ENST00000434554.7:c.2T>C	ENSP00000399960.3:p.Met1Thr
ENST00000582171.6:c.2T>C	ENSP00000463994.1:p.Met1Thr
ENST00000583599.6:c.-103+75T>C	ENSP00000463919.2:n.-103+75T>C
ENST00000641305.1:n.77T>C
ENST00000641323.1:c.2T>C	ENSP00000492965.1:p.Met1Thr
ENST00000641709.1:c.2T>C	ENSP00000493349.1:p.Met1Thr
ENST00000641856.1:c.2T>C	ENSP00000493224.1:p.Met1Thr
ENST00000642017.2:c.2T>C MANE Select	ENSP00000493302.2:p.Met1Thr
ENST00000225573.4:c.2T>C	ENSP00000225573.4:p.Met1Thr
ENST00000434554.6:c.2T>C	ENSP00000399960.2:p.Met1Thr
ENST00000582171.5:c.2T>C	ENSP00000463994.1:p.Met1Thr
ENST00000583245.5:c.2T>C	ENSP00000463520.1:p.Met1Thr
ENST00000583599.5:c.-103+75T>C	ENSP00000463919.1:n.-103+75T>C
ENST00000584061.5:c.2T>C	ENSP00000463972.1:p.Met1Thr
ENST00000585320.5:c.2T>C	ENSP00000462345.1:p.Met1Thr
NM_018129.3:c.2T>C	NP_060599.1:p.Met1Thr
XM_005257500.2:c.-477T>C	XP_005257557.1:n.-477T>C
XM_011524968.1:c.-159T>C	XP_011523270.1:n.-159T>C
XM_005257500.3:c.-477T>C	XP_005257557.1:n.-477T>C
XM_011524968.2:c.-159T>C	XP_011523270.1:n.-159T>C
XM_017024813.1:c.-103+75T>C	XP_016880302.1:n.-103+75T>C
NM_018129.4:c.2T>C MANE Select	NP_060599.1:p.Met1Thr