Canonical Allele Identifier: CA2194539517

Gene: POLG

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3498C=	ENSP00000516154.1:p.Tyr1166=
ENST00000268124.11:c.3498C= MANE Select	ENSP00000268124.5:p.Tyr1166=
ENST00000530292.3:c.3198C=	ENSP00000432885.2:n.3198C=
ENST00000635986.2:c.*568C=	ENSP00000490653.2:n.*568C=
ENST00000636774.1:c.*2102C=	ENSP00000489799.1:n.*2102C=
ENST00000637042.1:n.72-50C=
ENST00000637238.1:c.2406C=	ENSP00000490756.1:n.2406C=
ENST00000637264.1:c.2555-45C=
ENST00000666746.1:c.3075C=
ENST00000672071.1:n.4700C=
ENST00000672695.1:n.1277C=
ENST00000672923.2:n.3498C=
ENST00000268124.9:c.3498C=	ENSP00000268124.5:p.Tyr1166=
ENST00000442287.6:c.3498C=	ENSP00000399851.2:p.Tyr1166=
ENST00000526671.1:n.308C=
ENST00000530292.2:c.681C=	ENSP00000432885.1:n.681C=
ENST00000631044.2:c.*2922C=	ENSP00000486730.1:n.*2922C=
NM_001126131.1:c.3498C=	NP_001119603.1:p.Tyr1166=
NM_002693.2:c.3498C=	NP_002684.1:p.Tyr1166=
NM_001126131.2:c.3498C=	NP_001119603.1:p.Tyr1166=
NM_002693.3:c.3498C= MANE Select	NP_002684.1:p.Tyr1166=