Canonical Allele Identifier: CA393747264

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89860628T>C (hg19) ; chr15:g.89317397T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317397T>C , CM000677.2:g.89317397T>C	GRCh38
NC_000015.9:g.89860628T>C , CM000677.1:g.89860628T>C	GRCh37
NC_000015.8:g.87661632T>C	NCBI36
NG_008218.1:g.22399A>G
NG_011736.1:g.78435T>C , LRG_500:g.78435T>C
NG_008218.2:g.22399A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3622A>G	ENSP00000516154.1:p.Arg1208Gly
ENST00000268124.11:c.3622A>G MANE Select	ENSP00000268124.5:p.Arg1208Gly
ENST00000530292.3:c.3322A>G	ENSP00000432885.2:n.3322A>G
ENST00000635986.2:c.*692A>G	ENSP00000490653.2:n.*692A>G
ENST00000636774.1:c.*2226A>G	ENSP00000489799.1:n.*2226A>G
ENST00000637238.1:c.2530A>G	ENSP00000490756.1:n.2530A>G
ENST00000637264.1:c.2634A>G
ENST00000666746.1:c.3199A>G
ENST00000672071.1:n.4824A>G
ENST00000672695.1:n.1401A>G
ENST00000672923.2:n.3622A>G
ENST00000268124.9:c.3622A>G	ENSP00000268124.5:p.Arg1208Gly
ENST00000442287.6:c.3622A>G	ENSP00000399851.2:p.Arg1208Gly
ENST00000526671.1:n.432A>G
ENST00000530292.2:c.805A>G	ENSP00000432885.1:n.805A>G
ENST00000631044.2:c.*3046A>G	ENSP00000486730.1:n.*3046A>G
NM_001126131.1:c.3622A>G	NP_001119603.1:p.Arg1208Gly
NM_002693.2:c.3622A>G	NP_002684.1:p.Arg1208Gly
NM_001126131.2:c.3622A>G	NP_001119603.1:p.Arg1208Gly
NM_002693.3:c.3622A>G MANE Select	NP_002684.1:p.Arg1208Gly