Canonical Allele Identifier: CA2194550431

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89321754G= , CM000677.2:g.89321754G=	GRCh38
NC_000015.9:g.89864985G= , CM000677.1:g.89864985G=	GRCh37
NC_000015.8:g.87665989G=	NCBI36
NG_008218.1:g.18042C=
NG_008218.2:g.18042C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2580C=	ENSP00000516154.1:p.Leu860=
ENST00000268124.11:c.2580C= MANE Select	ENSP00000268124.5:p.Leu860=
ENST00000530292.3:c.2181C=	ENSP00000432885.2:p.Leu727=
ENST00000635986.2:c.2580C=	ENSP00000490653.2:p.Leu860=
ENST00000636774.1:c.*1147C=	ENSP00000489799.1:n.*1147C=
ENST00000637238.1:c.1277C=	ENSP00000490756.1:n.1277C=
ENST00000637264.1:c.1652C=
ENST00000666746.1:c.2157C=
ENST00000670281.1:c.800+208C=	ENSP00000499709.1:n.800+208C=
ENST00000672071.1:n.2778C=
ENST00000672923.2:n.2522C=
ENST00000268124.9:c.2580C=	ENSP00000268124.5:p.Leu860=
ENST00000442287.6:c.2580C=	ENSP00000399851.2:p.Leu860=
ENST00000528881.2:c.196-494C=
ENST00000530715.5:c.186-885C=	ENSP00000431395.1:n.186-885C=
ENST00000631044.2:c.*2004C=	ENSP00000486730.1:n.*2004C=
NM_001126131.1:c.2580C=	NP_001119603.1:p.Leu860=
NM_002693.2:c.2580C=	NP_002684.1:p.Leu860=
NM_001126131.2:c.2580C=	NP_001119603.1:p.Leu860=
NM_002693.3:c.2580C= MANE Select	NP_002684.1:p.Leu860=