Canonical Allele Identifier: CA626686054

Gene: PNPO

Linked Data

• dbSNP Id: rs1406277505
• gnomAD v2: 17-46024249-T-C
• gnomAD v3: 17-47946883-T-C
• gnomAD v4: 17-47946883-T-C
• MyVariant Identifiers: chr17:g.46024249T>C (hg19) ; chr17:g.47946883T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.47946883T>C , CM000679.2:g.47946883T>C	GRCh38
NC_000017.10:g.46024249T>C , CM000679.1:g.46024249T>C	GRCh37
NC_000017.9:g.43379248T>C	NCBI36
NG_008744.1:g.10361T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225573.5:c.*101T>C	ENSP00000225573.5:n.*101T>C
ENST00000434554.7:c.*101T>C	ENSP00000399960.3:n.*101T>C
ENST00000582171.6:c.*552T>C	ENSP00000463994.1:n.*552T>C
ENST00000584806.2:n.556T>C
ENST00000641305.1:n.2386T>C
ENST00000641323.1:c.*906T>C	ENSP00000492965.1:n.*906T>C
ENST00000641427.1:n.887T>C
ENST00000641703.1:c.603T>C	ENSP00000493219.1:n.603T>C
ENST00000641709.1:c.*709T>C	ENSP00000493349.1:n.*709T>C
ENST00000641856.1:c.*1395T>C	ENSP00000493224.1:n.*1395T>C
ENST00000642017.2:c.*101T>C MANE Select	ENSP00000493302.2:n.*101T>C
ENST00000225573.4:c.*101T>C	ENSP00000225573.4:n.*101T>C
ENST00000434554.6:c.*101T>C	ENSP00000399960.2:n.*101T>C
ENST00000582171.5:c.*552T>C	ENSP00000463994.1:n.*552T>C
NM_018129.3:c.*101T>C	NP_060599.1:n.*101T>C
XM_005257500.2:c.*101T>C	XP_005257557.1:n.*101T>C
XM_011524968.1:c.*101T>C	XP_011523270.1:n.*101T>C
XM_005257500.3:c.*101T>C	XP_005257557.1:n.*101T>C
XM_011524968.2:c.*101T>C	XP_011523270.1:n.*101T>C
XM_017024813.1:c.*101T>C	XP_016880302.1:n.*101T>C
NM_018129.4:c.*101T>C MANE Select	NP_060599.1:n.*101T>C