Canonical Allele Identifier: CA393748114

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89860752G>T (hg19) ; chr15:g.89317521G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317521G>T , CM000677.2:g.89317521G>T	GRCh38
NC_000015.9:g.89860752G>T , CM000677.1:g.89860752G>T	GRCh37
NC_000015.8:g.87661756G>T	NCBI36
NG_008218.1:g.22275C>A
NG_011736.1:g.78559G>T , LRG_500:g.78559G>T
NG_008218.2:g.22275C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3498C>A	ENSP00000516154.1:p.Tyr1166Ter
ENST00000268124.11:c.3498C>A MANE Select	ENSP00000268124.5:p.Tyr1166Ter
ENST00000530292.3:c.3198C>A	ENSP00000432885.2:n.3198C>A
ENST00000635986.2:c.*568C>A	ENSP00000490653.2:n.*568C>A
ENST00000636774.1:c.*2102C>A	ENSP00000489799.1:n.*2102C>A
ENST00000637042.1:n.72-50C>A
ENST00000637238.1:c.2406C>A	ENSP00000490756.1:n.2406C>A
ENST00000637264.1:c.2555-45C>A
ENST00000666746.1:c.3075C>A
ENST00000672071.1:n.4700C>A
ENST00000672695.1:n.1277C>A
ENST00000672923.2:n.3498C>A
ENST00000268124.9:c.3498C>A	ENSP00000268124.5:p.Tyr1166Ter
ENST00000442287.6:c.3498C>A	ENSP00000399851.2:p.Tyr1166Ter
ENST00000526671.1:n.308C>A
ENST00000530292.2:c.681C>A	ENSP00000432885.1:n.681C>A
ENST00000631044.2:c.*2922C>A	ENSP00000486730.1:n.*2922C>A
NM_001126131.1:c.3498C>A	NP_001119603.1:p.Tyr1166Ter
NM_002693.2:c.3498C>A	NP_002684.1:p.Tyr1166Ter
NM_001126131.2:c.3498C>A	NP_001119603.1:p.Tyr1166Ter
NM_002693.3:c.3498C>A MANE Select	NP_002684.1:p.Tyr1166Ter