Canonical Allele Identifier: CA123144

Gene: POLG

Linked Data

• ClinVar Variation Id: 13502
• ClinVar RCV Id: RCV000014449 ; RCV000014450 ; RCV000014451 ; RCV000014452 ; RCV000188580 ; RCV000363602 ; RCV000515163 ; RCV000678386 ; RCV001027839 ; RCV002054437 ; RCV002272018 ; RCV002313707 ; RCV001847601 ; RCV003231103 ; RCV003230362
• dbSNP Id: rs113994098
• ExAC: 15:89865023 C / T
• gnomAD v2: 15-89865023-C-T
• gnomAD v3: 15-89321792-C-T
• gnomAD v4: 15-89321792-C-T
• MyVariant Identifiers: chr15:g.89865023C>T (hg19) ; chr15:g.89321792C>T (hg38)
• PubMed: PMID:12210792 ; PMID:12872260 ; PMID:15349879 ; PMID:15689359 ; PMID:15929042 ; PMID:16177225 ; PMID:17426723 ; PMID:17980715 ; PMID:18500570 ; PMID:18828154 ; PMID:19307547 ; PMID:19478085 ; PMID:20301791 ; PMID:20513108 ; PMID:20818383 ; PMID:21228000 ; PMID:22006280 ; PMID:22189570 ; PMID:22342071 ; PMID:22616202 ; PMID:23448099 ; PMID:23891399 ; PMID:24272679 ; PMID:25585994

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89321792C>T , CM000677.2:g.89321792C>T	GRCh38
NC_000015.9:g.89865023C>T , CM000677.1:g.89865023C>T	GRCh37
NC_000015.8:g.87666027C>T	NCBI36
NG_008218.1:g.18004G>A
NG_008218.2:g.18004G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2542G>A	ENSP00000516154.1:p.Gly848Ser
ENST00000268124.11:c.2542G>A MANE Select	ENSP00000268124.5:p.Gly848Ser
ENST00000530292.3:c.2143G>A	ENSP00000432885.2:p.Gly715Ser
ENST00000635986.2:c.2542G>A	ENSP00000490653.2:p.Gly848Ser
ENST00000636774.1:c.*1109G>A	ENSP00000489799.1:n.*1109G>A
ENST00000637238.1:c.1239G>A	ENSP00000490756.1:n.1239G>A
ENST00000637264.1:c.1614G>A
ENST00000666746.1:c.2119G>A
ENST00000670281.1:c.800+170G>A	ENSP00000499709.1:n.800+170G>A
ENST00000672071.1:n.2740G>A
ENST00000672923.2:n.2484G>A
ENST00000268124.9:c.2542G>A	ENSP00000268124.5:p.Gly848Ser
ENST00000442287.6:c.2542G>A	ENSP00000399851.2:p.Gly848Ser
ENST00000528881.2:c.196-532G>A
ENST00000530715.5:c.186-923G>A	ENSP00000431395.1:n.186-923G>A
ENST00000532584.5:n.691G>A
ENST00000631044.2:c.*1966G>A	ENSP00000486730.1:n.*1966G>A
NM_001126131.1:c.2542G>A	NP_001119603.1:p.Gly848Ser
NM_002693.2:c.2542G>A	NP_002684.1:p.Gly848Ser
NM_001126131.2:c.2542G>A	NP_001119603.1:p.Gly848Ser
NM_002693.3:c.2542G>A MANE Select	NP_002684.1:p.Gly848Ser