Canonical Allele Identifier: CA2194555570

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323495G= , CM000677.2:g.89323495G=	GRCh38
NC_000015.9:g.89866726G= , CM000677.1:g.89866726G=	GRCh37
NC_000015.8:g.87667730G=	NCBI36
NG_008218.1:g.16301C=
NG_008218.2:g.16301C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2174C=	ENSP00000516154.1:p.Pro725=
ENST00000268124.11:c.2174C= MANE Select	ENSP00000268124.5:p.Pro725=
ENST00000530292.3:c.1775C=	ENSP00000432885.2:p.Pro592=
ENST00000635986.2:c.2174C=	ENSP00000490653.2:p.Pro725=
ENST00000636774.1:c.*741C=	ENSP00000489799.1:n.*741C=
ENST00000637238.1:c.871C=	ENSP00000490756.1:n.871C=
ENST00000637264.1:c.1246C=
ENST00000666746.1:c.1751C=
ENST00000670281.1:c.494C=	ENSP00000499709.1:p.Pro165=
ENST00000672071.1:n.2372C=
ENST00000672923.2:n.2277C=
ENST00000268124.9:c.2174C=	ENSP00000268124.5:p.Pro725=
ENST00000442287.6:c.2174C=	ENSP00000399851.2:p.Pro725=
ENST00000526314.2:c.539+320C=
ENST00000526398.1:c.323C=
ENST00000532584.5:n.376C=
ENST00000631044.2:c.*1598C=	ENSP00000486730.1:n.*1598C=
NM_001126131.1:c.2174C=	NP_001119603.1:p.Pro725=
NM_002693.2:c.2174C=	NP_002684.1:p.Pro725=
NM_001126131.2:c.2174C=	NP_001119603.1:p.Pro725=
NM_002693.3:c.2174C= MANE Select	NP_002684.1:p.Pro725=