Canonical Allele Identifier: CA492289079

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89864188A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89320957A>G , CM000677.2:g.89320957A>G	GRCh38
NC_000015.9:g.89864188A>G , CM000677.1:g.89864188A>G	GRCh37
NC_000015.8:g.87665192A>G	NCBI36
NG_008218.1:g.18839T>C
NG_008218.2:g.18839T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2790T>C	ENSP00000516154.1:p.Asp930=
ENST00000268124.11:c.2790T>C MANE Select	ENSP00000268124.5:p.Asp930=
ENST00000530292.3:c.2391T>C	ENSP00000432885.2:p.Asp797=
ENST00000635986.2:c.2790T>C	ENSP00000490653.2:p.Asp930=
ENST00000636774.1:c.*1357T>C	ENSP00000489799.1:n.*1357T>C
ENST00000637238.1:c.1599T>C	ENSP00000490756.1:n.1599T>C
ENST00000637264.1:c.1862T>C
ENST00000666746.1:c.2367T>C
ENST00000670281.1:c.800+1005T>C	ENSP00000499709.1:n.800+1005T>C
ENST00000672071.1:n.2988T>C
ENST00000672923.2:n.2732T>C
ENST00000268124.9:c.2790T>C	ENSP00000268124.5:p.Asp930=
ENST00000442287.6:c.2790T>C	ENSP00000399851.2:p.Asp930=
ENST00000528881.2:c.387T>C
ENST00000530715.5:c.186-88T>C	ENSP00000431395.1:n.186-88T>C
ENST00000631044.2:c.*2214T>C	ENSP00000486730.1:n.*2214T>C
NM_001126131.1:c.2790T>C	NP_001119603.1:p.Asp930=
NM_002693.2:c.2790T>C	NP_002684.1:p.Asp930=
NM_001126131.2:c.2790T>C	NP_001119603.1:p.Asp930=
NM_002693.3:c.2790T>C MANE Select	NP_002684.1:p.Asp930=