Canonical Allele Identifier: CA2194550438

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325627A= , CM000677.2:g.89325627A=	GRCh38
NC_000015.9:g.89868858A= , CM000677.1:g.89868858A=	GRCh37
NC_000015.8:g.87669862A=	NCBI36
NG_008218.1:g.14169T=
NG_008218.2:g.14169T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1772T=	ENSP00000516154.1:p.Leu591=
ENST00000268124.11:c.1772T= MANE Select	ENSP00000268124.5:p.Leu591=
ENST00000530292.3:c.1373T=	ENSP00000432885.2:p.Leu458=
ENST00000635986.2:c.1772T=	ENSP00000490653.2:p.Leu591=
ENST00000636774.1:c.*339T=	ENSP00000489799.1:n.*339T=
ENST00000637238.1:c.509T=	ENSP00000490756.1:p.Leu170=
ENST00000637264.1:c.844T=
ENST00000666746.1:c.1349T=
ENST00000670281.1:c.92T=	ENSP00000499709.1:p.Leu31=
ENST00000672071.1:n.1970T=
ENST00000672923.2:n.1875T=
ENST00000268124.9:c.1772T=	ENSP00000268124.5:p.Leu591=
ENST00000442287.6:c.1772T=	ENSP00000399851.2:p.Leu591=
ENST00000526314.2:c.154T=
ENST00000631044.2:c.*1155T=	ENSP00000486730.1:n.*1155T=
NM_001126131.1:c.1772T=	NP_001119603.1:p.Leu591=
NM_002693.2:c.1772T=	NP_002684.1:p.Leu591=
NM_001126131.2:c.1772T=	NP_001119603.1:p.Leu591=
NM_002693.3:c.1772T= MANE Select	NP_002684.1:p.Leu591=