Canonical Allele Identifier: CA10602283

Gene: POLG

Linked Data

• ClinVar Variation Id: 619341
• ClinVar RCV Id: RCV000758332
• dbSNP Id: rs758720361
• gnomAD v4: 15-89317435-A-C
• MyVariant Identifiers: chr15:g.89860666A>C (hg19) ; chr15:g.89317435A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317435A>C , CM000677.2:g.89317435A>C	GRCh38
NC_000015.9:g.89860666A>C , CM000677.1:g.89860666A>C	GRCh37
NC_000015.8:g.87661670A>C	NCBI36
NG_008218.1:g.22361T>G
NG_011736.1:g.78473A>C , LRG_500:g.78473A>C
NG_008218.2:g.22361T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3584T>G	ENSP00000516154.1:p.Met1195Arg
ENST00000268124.11:c.3584T>G MANE Select	ENSP00000268124.5:p.Met1195Arg
ENST00000530292.3:c.3284T>G	ENSP00000432885.2:n.3284T>G
ENST00000635986.2:c.*654T>G	ENSP00000490653.2:n.*654T>G
ENST00000636774.1:c.*2188T>G	ENSP00000489799.1:n.*2188T>G
ENST00000637238.1:c.2492T>G	ENSP00000490756.1:n.2492T>G
ENST00000637264.1:c.2596T>G
ENST00000666746.1:c.3161T>G
ENST00000672071.1:n.4786T>G
ENST00000672695.1:n.1363T>G
ENST00000672923.2:n.3584T>G
ENST00000268124.9:c.3584T>G	ENSP00000268124.5:p.Met1195Arg
ENST00000442287.6:c.3584T>G	ENSP00000399851.2:p.Met1195Arg
ENST00000526671.1:n.394T>G
ENST00000530292.2:c.767T>G	ENSP00000432885.1:n.767T>G
ENST00000631044.2:c.*3008T>G	ENSP00000486730.1:n.*3008T>G
NM_001126131.1:c.3584T>G	NP_001119603.1:p.Met1195Arg
NM_002693.2:c.3584T>G	NP_002684.1:p.Met1195Arg
NM_001126131.2:c.3584T>G	NP_001119603.1:p.Met1195Arg
NM_002693.3:c.3584T>G MANE Select	NP_002684.1:p.Met1195Arg