Canonical Allele Identifier: CA123142

Gene: POLG

Linked Data

• ClinVar Variation Id: 13503
• ClinVar RCV Id: RCV000014448 ; RCV000014447 ; RCV000020484 ; RCV000184009 ; RCV000188641 ; RCV000194055 ; RCV000262479 ; RCV000415105 ; RCV001004407 ; RCV001642225 ; RCV001678594 ; RCV001813742 ; RCV001813985 ; RCV001847602 ; RCV002272019 ; RCV002287334 ; RCV002313708 ; RCV002319423 ; RCV003458331
• dbSNP Id: rs113994094
• ExAC: 15:89873415 G / A
• gnomAD v2: 15-89873415-G-A
• gnomAD v3: 15-89330184-G-A
• gnomAD v4: 15-89330184-G-A
• MyVariant Identifiers: chr15:g.89873415G>A (hg19) ; chr15:g.89330184G>A (hg38)
• PubMed: PMID:12210792 ; PMID:12297582 ; PMID:12825077 ; PMID:15349879 ; PMID:16621917 ; PMID:18487244 ; PMID:18546365 ; PMID:19189930 ; PMID:20301791 ; PMID:20513108 ; PMID:21880868 ; PMID:22616202 ; PMID:23665194 ; PMID:23783014 ; PMID:24508722 ; PMID:25660390

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89330184G>A , CM000677.2:g.89330184G>A	GRCh38
NC_000015.9:g.89873415G>A , CM000677.1:g.89873415G>A	GRCh37
NC_000015.8:g.87674419G>A	NCBI36
NG_008218.1:g.9612C>T
NG_008218.2:g.9612C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.752C>T	ENSP00000516154.1:p.Thr251Ile
ENST00000268124.11:c.752C>T MANE Select	ENSP00000268124.5:p.Thr251Ile
ENST00000530292.3:c.353C>T	ENSP00000432885.2:p.Thr118Ile
ENST00000635986.2:c.752C>T	ENSP00000490653.2:p.Thr251Ile
ENST00000636774.1:c.752C>T	ENSP00000489799.1:p.Thr251Ile
ENST00000666746.1:c.409C>T
ENST00000672071.1:n.950C>T
ENST00000268124.9:c.752C>T	ENSP00000268124.5:p.Thr251Ile
ENST00000442287.6:c.752C>T	ENSP00000399851.2:p.Thr251Ile
ENST00000631044.2:c.*135C>T	ENSP00000486730.1:n.*135C>T
NM_001126131.1:c.752C>T	NP_001119603.1:p.Thr251Ile
NM_002693.2:c.752C>T	NP_002684.1:p.Thr251Ile
NM_001126131.2:c.752C>T	NP_001119603.1:p.Thr251Ile
NM_002693.3:c.752C>T MANE Select	NP_002684.1:p.Thr251Ile