Canonical Allele Identifier: CA316697

Gene: POLG

Linked Data

• ClinVar Variation Id: 206526
• ClinVar RCV Id: RCV000188578 ; RCV001852490
• dbSNP Id: rs762985241
• ExAC: 15:89865069 A / C
• gnomAD v2: 15-89865069-A-C
• gnomAD v3: 15-89321838-A-C
• gnomAD v4: 15-89321838-A-C
• MyVariant Identifiers: chr15:g.89865069A>C (hg19) ; chr15:g.89321838A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89321838A>C , CM000677.2:g.89321838A>C	GRCh38
NC_000015.9:g.89865069A>C , CM000677.1:g.89865069A>C	GRCh37
NC_000015.8:g.87666073A>C	NCBI36
NG_008218.1:g.17958T>G
NG_008218.2:g.17958T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2496T>G	ENSP00000516154.1:p.Asp832Glu
ENST00000268124.11:c.2496T>G MANE Select	ENSP00000268124.5:p.Asp832Glu
ENST00000530292.3:c.2097T>G	ENSP00000432885.2:p.Asp699Glu
ENST00000635986.2:c.2496T>G	ENSP00000490653.2:p.Asp832Glu
ENST00000636774.1:c.*1063T>G	ENSP00000489799.1:n.*1063T>G
ENST00000637238.1:c.1193T>G	ENSP00000490756.1:n.1193T>G
ENST00000637264.1:c.1568T>G
ENST00000666746.1:c.2073T>G
ENST00000670281.1:c.800+124T>G	ENSP00000499709.1:n.800+124T>G
ENST00000672071.1:n.2694T>G
ENST00000672923.2:n.2438T>G
ENST00000268124.9:c.2496T>G	ENSP00000268124.5:p.Asp832Glu
ENST00000442287.6:c.2496T>G	ENSP00000399851.2:p.Asp832Glu
ENST00000528881.2:c.196-578T>G
ENST00000530715.5:c.185+904T>G	ENSP00000431395.1:n.185+904T>G
ENST00000532584.5:n.645T>G
ENST00000631044.2:c.*1920T>G	ENSP00000486730.1:n.*1920T>G
NM_001126131.1:c.2496T>G	NP_001119603.1:p.Asp832Glu
NM_002693.2:c.2496T>G	NP_002684.1:p.Asp832Glu
NM_001126131.2:c.2496T>G	NP_001119603.1:p.Asp832Glu
NM_002693.3:c.2496T>G MANE Select	NP_002684.1:p.Asp832Glu