Canonical Allele Identifier: CA316869

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317532T>C , CM000677.2:g.89317532T>C	GRCh38
NC_000015.9:g.89860763T>C , CM000677.1:g.89860763T>C	GRCh37
NC_000015.8:g.87661767T>C	NCBI36
NG_008218.1:g.22264A>G
NG_011736.1:g.78570T>C , LRG_500:g.78570T>C
NG_008218.2:g.22264A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3487A>G	ENSP00000516154.1:p.Met1163Val
ENST00000268124.11:c.3487A>G MANE Select	ENSP00000268124.5:p.Met1163Val
ENST00000530292.3:c.3187A>G	ENSP00000432885.2:n.3187A>G
ENST00000635986.2:c.*557A>G	ENSP00000490653.2:n.*557A>G
ENST00000636774.1:c.*2091A>G	ENSP00000489799.1:n.*2091A>G
ENST00000637042.1:n.72-61A>G
ENST00000637238.1:c.2395A>G	ENSP00000490756.1:n.2395A>G
ENST00000637264.1:c.2555-56A>G
ENST00000666746.1:c.3064A>G
ENST00000672071.1:n.4689A>G
ENST00000672695.1:n.1266A>G
ENST00000672923.2:n.3487A>G
ENST00000268124.9:c.3487A>G	ENSP00000268124.5:p.Met1163Val
ENST00000442287.6:c.3487A>G	ENSP00000399851.2:p.Met1163Val
ENST00000526671.1:n.297A>G
ENST00000530292.2:c.670A>G	ENSP00000432885.1:n.670A>G
ENST00000631044.2:c.*2911A>G	ENSP00000486730.1:n.*2911A>G
NM_001126131.1:c.3487A>G	NP_001119603.1:p.Met1163Val
NM_002693.2:c.3487A>G	NP_002684.1:p.Met1163Val
NM_001126131.2:c.3487A>G	NP_001119603.1:p.Met1163Val
NM_002693.3:c.3487A>G MANE Select	NP_002684.1:p.Met1163Val