Canonical Allele Identifier: CA2194555536

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323481G= , CM000677.2:g.89323481G=	GRCh38
NC_000015.9:g.89866712G= , CM000677.1:g.89866712G=	GRCh37
NC_000015.8:g.87667716G=	NCBI36
NG_008218.1:g.16315C=
NG_008218.2:g.16315C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2188C=	ENSP00000516154.1:p.Pro730=
ENST00000268124.11:c.2188C= MANE Select	ENSP00000268124.5:p.Pro730=
ENST00000530292.3:c.1789C=	ENSP00000432885.2:p.Pro597=
ENST00000635986.2:c.2188C=	ENSP00000490653.2:p.Pro730=
ENST00000636774.1:c.*755C=	ENSP00000489799.1:n.*755C=
ENST00000637238.1:c.885C=	ENSP00000490756.1:n.885C=
ENST00000637264.1:c.1260C=
ENST00000666746.1:c.1765C=
ENST00000670281.1:c.508C=	ENSP00000499709.1:p.Pro170=
ENST00000672071.1:n.2386C=
ENST00000672923.2:n.2291C=
ENST00000268124.9:c.2188C=	ENSP00000268124.5:p.Pro730=
ENST00000442287.6:c.2188C=	ENSP00000399851.2:p.Pro730=
ENST00000526314.2:c.539+334C=
ENST00000526398.1:c.337C=
ENST00000532584.5:n.390C=
ENST00000631044.2:c.*1612C=	ENSP00000486730.1:n.*1612C=
NM_001126131.1:c.2188C=	NP_001119603.1:p.Pro730=
NM_002693.2:c.2188C=	NP_002684.1:p.Pro730=
NM_001126131.2:c.2188C=	NP_001119603.1:p.Pro730=
NM_002693.3:c.2188C= MANE Select	NP_002684.1:p.Pro730=