Canonical Allele Identifier: CA393747489

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89860681C>T (hg19) ; chr15:g.89317450C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317450C>T , CM000677.2:g.89317450C>T	GRCh38
NC_000015.9:g.89860681C>T , CM000677.1:g.89860681C>T	GRCh37
NC_000015.8:g.87661685C>T	NCBI36
NG_008218.1:g.22346G>A
NG_011736.1:g.78488C>T , LRG_500:g.78488C>T
NG_008218.2:g.22346G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3569G>A	ENSP00000516154.1:p.Arg1190Lys
ENST00000268124.11:c.3569G>A MANE Select	ENSP00000268124.5:p.Arg1190Lys
ENST00000530292.3:c.3269G>A	ENSP00000432885.2:n.3269G>A
ENST00000635986.2:c.*639G>A	ENSP00000490653.2:n.*639G>A
ENST00000636774.1:c.*2173G>A	ENSP00000489799.1:n.*2173G>A
ENST00000637042.1:n.93G>A
ENST00000637238.1:c.2477G>A	ENSP00000490756.1:n.2477G>A
ENST00000637264.1:c.2581G>A
ENST00000666746.1:c.3146G>A
ENST00000672071.1:n.4771G>A
ENST00000672695.1:n.1348G>A
ENST00000672923.2:n.3569G>A
ENST00000268124.9:c.3569G>A	ENSP00000268124.5:p.Arg1190Lys
ENST00000442287.6:c.3569G>A	ENSP00000399851.2:p.Arg1190Lys
ENST00000526671.1:n.379G>A
ENST00000530292.2:c.752G>A	ENSP00000432885.1:n.752G>A
ENST00000631044.2:c.*2993G>A	ENSP00000486730.1:n.*2993G>A
NM_001126131.1:c.3569G>A	NP_001119603.1:p.Arg1190Lys
NM_002693.2:c.3569G>A	NP_002684.1:p.Arg1190Lys
NM_001126131.2:c.3569G>A	NP_001119603.1:p.Arg1190Lys
NM_002693.3:c.3569G>A MANE Select	NP_002684.1:p.Arg1190Lys