Canonical Allele Identifier: CA248706

Gene: POLG

Linked Data

• ClinVar Variation Id: 21312
• ClinVar RCV Id: RCV001847611 ; RCV002311518
• dbSNP Id: rs2307441
• ExAC: 15:89861826 T / C
• gnomAD v2: 15-89861826-T-C
• gnomAD v3: 15-89318595-T-C
• gnomAD v4: 15-89318595-T-C
• MyVariant Identifiers: chr15:g.89861826T>C (hg19) ; chr15:g.89318595T>C (hg38)
• PubMed: PMID:20301791
• ERepo: CA248706/MONDO:0044970/014

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318595T>C , CM000677.2:g.89318595T>C	GRCh38
NC_000015.9:g.89861826T>C , CM000677.1:g.89861826T>C	GRCh37
NC_000015.8:g.87662830T>C	NCBI36
NG_008218.1:g.21201A>G
NG_011736.1:g.79633T>C , LRG_500:g.79633T>C
NG_008218.2:g.21201A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.3428A>G	ENSP00000516154.1:p.Glu1143Gly
ENST00000268124.11:c.3428A>G MANE Select	ENSP00000268124.5:p.Glu1143Gly
ENST00000530292.3:c.3029A>G	ENSP00000432885.2:p.Glu1010Gly
ENST00000635986.2:c.*498A>G	ENSP00000490653.2:n.*498A>G
ENST00000636774.1:c.*1995A>G	ENSP00000489799.1:n.*1995A>G
ENST00000637238.1:c.2237A>G	ENSP00000490756.1:n.2237A>G
ENST00000637264.1:c.2500A>G
ENST00000666746.1:c.3005A>G
ENST00000672071.1:n.3626A>G
ENST00000672695.1:n.605A>G
ENST00000672923.2:n.3428A>G
ENST00000268124.9:c.3428A>G	ENSP00000268124.5:p.Glu1143Gly
ENST00000442287.6:c.3428A>G	ENSP00000399851.2:p.Glu1143Gly
ENST00000530292.2:c.512A>G	ENSP00000432885.1:p.Glu171Gly
ENST00000631044.2:c.*2852A>G	ENSP00000486730.1:n.*2852A>G
NM_001126131.1:c.3428A>G	NP_001119603.1:p.Glu1143Gly
NM_002693.2:c.3428A>G	NP_002684.1:p.Glu1143Gly
NM_001126131.2:c.3428A>G	NP_001119603.1:p.Glu1143Gly
NM_002693.3:c.3428A>G MANE Select	NP_002684.1:p.Glu1143Gly