Canonical Allele Identifier: CA393747389

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89860658T>A (hg19) ; chr15:g.89317427T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317427T>A , CM000677.2:g.89317427T>A	GRCh38
NC_000015.9:g.89860658T>A , CM000677.1:g.89860658T>A	GRCh37
NC_000015.8:g.87661662T>A	NCBI36
NG_008218.1:g.22369A>T
NG_011736.1:g.78465T>A , LRG_500:g.78465T>A
NG_008218.2:g.22369A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3592A>T	ENSP00000516154.1:p.Lys1198Ter
ENST00000268124.11:c.3592A>T MANE Select	ENSP00000268124.5:p.Lys1198Ter
ENST00000530292.3:c.3292A>T	ENSP00000432885.2:n.3292A>T
ENST00000635986.2:c.*662A>T	ENSP00000490653.2:n.*662A>T
ENST00000636774.1:c.*2196A>T	ENSP00000489799.1:n.*2196A>T
ENST00000637238.1:c.2500A>T	ENSP00000490756.1:n.2500A>T
ENST00000637264.1:c.2604A>T
ENST00000666746.1:c.3169A>T
ENST00000672071.1:n.4794A>T
ENST00000672695.1:n.1371A>T
ENST00000672923.2:n.3592A>T
ENST00000268124.9:c.3592A>T	ENSP00000268124.5:p.Lys1198Ter
ENST00000442287.6:c.3592A>T	ENSP00000399851.2:p.Lys1198Ter
ENST00000526671.1:n.402A>T
ENST00000530292.2:c.775A>T	ENSP00000432885.1:n.775A>T
ENST00000631044.2:c.*3016A>T	ENSP00000486730.1:n.*3016A>T
NM_001126131.1:c.3592A>T	NP_001119603.1:p.Lys1198Ter
NM_002693.2:c.3592A>T	NP_002684.1:p.Lys1198Ter
NM_001126131.2:c.3592A>T	NP_001119603.1:p.Lys1198Ter
NM_002693.3:c.3592A>T MANE Select	NP_002684.1:p.Lys1198Ter