Canonical Allele Identifier: CA2194548210

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89320984C= , CM000677.2:g.89320984C=	GRCh38
NC_000015.9:g.89864215C= , CM000677.1:g.89864215C=	GRCh37
NC_000015.8:g.87665219C=	NCBI36
NG_008218.1:g.18812G=
NG_008218.2:g.18812G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2763G=	ENSP00000516154.1:p.Leu921=
ENST00000268124.11:c.2763G= MANE Select	ENSP00000268124.5:p.Leu921=
ENST00000530292.3:c.2364G=	ENSP00000432885.2:p.Leu788=
ENST00000635986.2:c.2763G=	ENSP00000490653.2:p.Leu921=
ENST00000636774.1:c.*1330G=	ENSP00000489799.1:n.*1330G=
ENST00000637238.1:c.1572G=	ENSP00000490756.1:n.1572G=
ENST00000637264.1:c.1835G=
ENST00000666746.1:c.2340G=
ENST00000670281.1:c.800+978G=	ENSP00000499709.1:n.800+978G=
ENST00000672071.1:n.2961G=
ENST00000672923.2:n.2705G=
ENST00000268124.9:c.2763G=	ENSP00000268124.5:p.Leu921=
ENST00000442287.6:c.2763G=	ENSP00000399851.2:p.Leu921=
ENST00000528881.2:c.360G=
ENST00000530715.5:c.186-115G=	ENSP00000431395.1:n.186-115G=
ENST00000631044.2:c.*2187G=	ENSP00000486730.1:n.*2187G=
NM_001126131.1:c.2763G=	NP_001119603.1:p.Leu921=
NM_002693.2:c.2763G=	NP_002684.1:p.Leu921=
NM_001126131.2:c.2763G=	NP_001119603.1:p.Leu921=
NM_002693.3:c.2763G= MANE Select	NP_002684.1:p.Leu921=