Canonical Allele Identifier: CA341291

Gene: POLG

Linked Data

• ClinVar Variation Id: 13495
• ClinVar RCV Id: RCV000014439 ; RCV000758267 ; RCV000508934 ; RCV000676321 ; RCV003478975
• dbSNP Id: rs113994099
• gnomAD v4: 15-89320883-T-C
• MyVariant Identifiers: chr15:g.89864114T>C (hg19) ; chr15:g.89320883T>C (hg38)
• PubMed: PMID:2067633 ; PMID:2725645 ; PMID:11431686 ; PMID:11897778 ; PMID:12210792 ; PMID:14467368 ; PMID:15351195 ; PMID:20301791 ; PMID:28812649

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89320883T>C , CM000677.2:g.89320883T>C	GRCh38
NC_000015.9:g.89864114T>C , CM000677.1:g.89864114T>C	GRCh37
NC_000015.8:g.87665118T>C	NCBI36
NG_008218.1:g.18913A>G
NG_008218.2:g.18913A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2864A>G	ENSP00000516154.1:p.Tyr955Cys
ENST00000268124.11:c.2864A>G MANE Select	ENSP00000268124.5:p.Tyr955Cys
ENST00000530292.3:c.2465A>G	ENSP00000432885.2:p.Tyr822Cys
ENST00000635986.2:c.2864A>G	ENSP00000490653.2:p.Tyr955Cys
ENST00000636774.1:c.*1431A>G	ENSP00000489799.1:n.*1431A>G
ENST00000637238.1:c.1673A>G	ENSP00000490756.1:n.1673A>G
ENST00000637264.1:c.1936A>G
ENST00000666746.1:c.2441A>G
ENST00000670281.1:c.800+1079A>G	ENSP00000499709.1:n.800+1079A>G
ENST00000672071.1:n.3062A>G
ENST00000672695.1:n.41A>G
ENST00000672923.2:n.2806A>G
ENST00000268124.9:c.2864A>G	ENSP00000268124.5:p.Tyr955Cys
ENST00000442287.6:c.2864A>G	ENSP00000399851.2:p.Tyr955Cys
ENST00000528881.2:c.461A>G
ENST00000530715.5:c.186-14A>G	ENSP00000431395.1:n.186-14A>G
ENST00000631044.2:c.*2288A>G	ENSP00000486730.1:n.*2288A>G
NM_001126131.1:c.2864A>G	NP_001119603.1:p.Tyr955Cys
NM_002693.2:c.2864A>G	NP_002684.1:p.Tyr955Cys
NM_001126131.2:c.2864A>G	NP_001119603.1:p.Tyr955Cys
NM_002693.3:c.2864A>G MANE Select	NP_002684.1:p.Tyr955Cys