Canonical Allele Identifier: CA2194555233

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323417T= , CM000677.2:g.89323417T=	GRCh38
NC_000015.9:g.89866648T= , CM000677.1:g.89866648T=	GRCh37
NC_000015.8:g.87667652T=	NCBI36
NG_008218.1:g.16379A=
NG_008218.2:g.16379A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2252A=	ENSP00000516154.1:p.Lys751=
ENST00000268124.11:c.2252A= MANE Select	ENSP00000268124.5:p.Lys751=
ENST00000530292.3:c.1853A=	ENSP00000432885.2:p.Lys618=
ENST00000635986.2:c.2252A=	ENSP00000490653.2:p.Lys751=
ENST00000636774.1:c.*819A=	ENSP00000489799.1:n.*819A=
ENST00000637238.1:c.949A=	ENSP00000490756.1:n.949A=
ENST00000637264.1:c.1324A=
ENST00000666746.1:c.1829A=
ENST00000670281.1:c.572A=	ENSP00000499709.1:p.Lys191=
ENST00000672071.1:n.2450A=
ENST00000672923.2:n.2355A=
ENST00000268124.9:c.2252A=	ENSP00000268124.5:p.Lys751=
ENST00000442287.6:c.2252A=	ENSP00000399851.2:p.Lys751=
ENST00000526314.2:c.539+398A=
ENST00000526398.1:c.401A=
ENST00000528881.2:c.21A=
ENST00000530715.5:c.11A=	ENSP00000431395.1:p.Lys4=
ENST00000532584.5:n.454A=
ENST00000631044.2:c.*1676A=	ENSP00000486730.1:n.*1676A=
NM_001126131.1:c.2252A=	NP_001119603.1:p.Lys751=
NM_002693.2:c.2252A=	NP_002684.1:p.Lys751=
NM_001126131.2:c.2252A=	NP_001119603.1:p.Lys751=
NM_002693.3:c.2252A= MANE Select	NP_002684.1:p.Lys751=