Canonical Allele Identifier: CA2194550417

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325617C= , CM000677.2:g.89325617C=	GRCh38
NC_000015.9:g.89868848C= , CM000677.1:g.89868848C=	GRCh37
NC_000015.8:g.87669852C=	NCBI36
NG_008218.1:g.14179G=
NG_008218.2:g.14179G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1782G=	ENSP00000516154.1:p.Leu594=
ENST00000268124.11:c.1782G= MANE Select	ENSP00000268124.5:p.Leu594=
ENST00000530292.3:c.1383G=	ENSP00000432885.2:p.Leu461=
ENST00000635986.2:c.1782G=	ENSP00000490653.2:p.Leu594=
ENST00000636774.1:c.*349G=	ENSP00000489799.1:n.*349G=
ENST00000637238.1:c.519G=	ENSP00000490756.1:p.Leu173=
ENST00000637264.1:c.854G=
ENST00000666746.1:c.1359G=
ENST00000670281.1:c.102G=	ENSP00000499709.1:p.Leu34=
ENST00000672071.1:n.1980G=
ENST00000672923.2:n.1885G=
ENST00000268124.9:c.1782G=	ENSP00000268124.5:p.Leu594=
ENST00000442287.6:c.1782G=	ENSP00000399851.2:p.Leu594=
ENST00000526314.2:c.164G=
ENST00000631044.2:c.*1165G=	ENSP00000486730.1:n.*1165G=
NM_001126131.1:c.1782G=	NP_001119603.1:p.Leu594=
NM_002693.2:c.1782G=	NP_002684.1:p.Leu594=
NM_001126131.2:c.1782G=	NP_001119603.1:p.Leu594=
NM_002693.3:c.1782G= MANE Select	NP_002684.1:p.Leu594=