Canonical Allele Identifier: CA393748190

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317531A>T , CM000677.2:g.89317531A>T	GRCh38
NC_000015.9:g.89860762A>T , CM000677.1:g.89860762A>T	GRCh37
NC_000015.8:g.87661766A>T	NCBI36
NG_008218.1:g.22265T>A
NG_011736.1:g.78569A>T , LRG_500:g.78569A>T
NG_008218.2:g.22265T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.3488T>A MANE Select	NP_002684.1:p.Met1163Lys
ENST00000268124.11:c.3488T>A MANE Select	ENSP00000268124.5:p.Met1163Lys
NM_001126131.1:c.3488T>A	NP_001119603.1:p.Met1163Lys
NM_001126131.2:c.3488T>A	NP_001119603.1:p.Met1163Lys
NM_002693.2:c.3488T>A	NP_002684.1:p.Met1163Lys
ENST00000268124.9:c.3488T>A	ENSP00000268124.5:p.Met1163Lys
ENST00000442287.6:c.3488T>A	ENSP00000399851.2:p.Met1163Lys
ENST00000526671.1:n.298T>A
ENST00000530292.2:c.671T>A	ENSP00000432885.1:n.671T>A
ENST00000530292.3:c.3188T>A	ENSP00000432885.2:n.3188T>A
ENST00000631044.2:c.*2912T>A	ENSP00000486730.1:n.*2912T>A
ENST00000635986.2:c.*558T>A	ENSP00000490653.2:n.*558T>A
ENST00000636774.1:c.*2092T>A	ENSP00000489799.1:n.*2092T>A
ENST00000636937.2:c.3488T>A	ENSP00000516154.1:p.Met1163Lys
ENST00000637042.1:n.72-60T>A
ENST00000637238.1:c.2396T>A	ENSP00000490756.1:n.2396T>A
ENST00000637264.1:c.2555-55T>A
ENST00000666746.1:c.3065T>A
ENST00000672071.1:n.4690T>A
ENST00000672695.1:n.1267T>A
ENST00000672923.2:n.3488T>A