Canonical Allele Identifier: CA393747895

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317496G>A , CM000677.2:g.89317496G>A	GRCh38
NC_000015.9:g.89860727G>A , CM000677.1:g.89860727G>A	GRCh37
NC_000015.8:g.87661731G>A	NCBI36
NG_008218.1:g.22300C>T
NG_011736.1:g.78534G>A , LRG_500:g.78534G>A
NG_008218.2:g.22300C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.3523C>T MANE Select	NP_002684.1:p.Gln1175Ter
ENST00000268124.11:c.3523C>T MANE Select	ENSP00000268124.5:p.Gln1175Ter
NM_001126131.1:c.3523C>T	NP_001119603.1:p.Gln1175Ter
NM_001126131.2:c.3523C>T	NP_001119603.1:p.Gln1175Ter
NM_002693.2:c.3523C>T	NP_002684.1:p.Gln1175Ter
ENST00000268124.9:c.3523C>T	ENSP00000268124.5:p.Gln1175Ter
ENST00000442287.6:c.3523C>T	ENSP00000399851.2:p.Gln1175Ter
ENST00000526671.1:n.333C>T
ENST00000530292.2:c.706C>T	ENSP00000432885.1:n.706C>T
ENST00000530292.3:c.3223C>T	ENSP00000432885.2:n.3223C>T
ENST00000631044.2:c.*2947C>T	ENSP00000486730.1:n.*2947C>T
ENST00000635986.2:c.*593C>T	ENSP00000490653.2:n.*593C>T
ENST00000636774.1:c.*2127C>T	ENSP00000489799.1:n.*2127C>T
ENST00000636937.2:c.3523C>T	ENSP00000516154.1:p.Gln1175Ter
ENST00000637042.1:n.72-25C>T
ENST00000637238.1:c.2431C>T	ENSP00000490756.1:n.2431C>T
ENST00000637264.1:c.2555-20C>T
ENST00000666746.1:c.3100C>T
ENST00000672071.1:n.4725C>T
ENST00000672695.1:n.1302C>T
ENST00000672923.2:n.3523C>T