Canonical Allele Identifier: CA7724090

Gene: POLG

Linked Data

• dbSNP Id: rs758720361
• ExAC: 15:89860666 A / G
• gnomAD v2: 15-89860666-A-G
• gnomAD v4: 15-89317435-A-G
• MyVariant Identifiers: chr15:g.89860666A>G (hg19) ; chr15:g.89317435A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3584T>C	ENSP00000516154.1:p.Met1195Thr
ENST00000268124.11:c.3584T>C MANE Select	ENSP00000268124.5:p.Met1195Thr
ENST00000530292.3:c.3284T>C	ENSP00000432885.2:n.3284T>C
ENST00000635986.2:c.*654T>C	ENSP00000490653.2:n.*654T>C
ENST00000636774.1:c.*2188T>C	ENSP00000489799.1:n.*2188T>C
ENST00000637238.1:c.2492T>C	ENSP00000490756.1:n.2492T>C
ENST00000637264.1:c.2596T>C
ENST00000666746.1:c.3161T>C
ENST00000672071.1:n.4786T>C
ENST00000672695.1:n.1363T>C
ENST00000672923.2:n.3584T>C
ENST00000268124.9:c.3584T>C	ENSP00000268124.5:p.Met1195Thr
ENST00000442287.6:c.3584T>C	ENSP00000399851.2:p.Met1195Thr
ENST00000526671.1:n.394T>C
ENST00000530292.2:c.767T>C	ENSP00000432885.1:n.767T>C
ENST00000631044.2:c.*3008T>C	ENSP00000486730.1:n.*3008T>C
NM_001126131.1:c.3584T>C	NP_001119603.1:p.Met1195Thr
NM_002693.2:c.3584T>C	NP_002684.1:p.Met1195Thr
NM_001126131.2:c.3584T>C	NP_001119603.1:p.Met1195Thr
NM_002693.3:c.3584T>C MANE Select	NP_002684.1:p.Met1195Thr