Canonical Allele Identifier: CA393751300

Gene: POLG

Linked Data

• gnomAD v4: 15-89319253-T-C
• MyVariant Identifiers: chr15:g.89862484T>C (hg19) ; chr15:g.89319253T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89319253T>C , CM000677.2:g.89319253T>C	GRCh38
NC_000015.9:g.89862484T>C , CM000677.1:g.89862484T>C	GRCh37
NC_000015.8:g.87663488T>C	NCBI36
NG_008218.1:g.20543A>G
NG_008218.2:g.20543A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.3079A>G	ENSP00000516154.1:p.Lys1027Glu
ENST00000268124.11:c.3079A>G MANE Select	ENSP00000268124.5:p.Lys1027Glu
ENST00000530292.3:c.2680A>G	ENSP00000432885.2:p.Lys894Glu
ENST00000635986.2:c.*149A>G	ENSP00000490653.2:n.*149A>G
ENST00000636530.1:n.39A>G
ENST00000636774.1:c.*1646A>G	ENSP00000489799.1:n.*1646A>G
ENST00000637238.1:c.1888A>G	ENSP00000490756.1:n.1888A>G
ENST00000637264.1:c.2151A>G
ENST00000666746.1:c.2656A>G
ENST00000672071.1:n.3277A>G
ENST00000672695.1:n.256A>G
ENST00000672923.2:n.3079A>G
ENST00000268124.9:c.3079A>G	ENSP00000268124.5:p.Lys1027Glu
ENST00000442287.6:c.3079A>G	ENSP00000399851.2:p.Lys1027Glu
ENST00000530292.2:c.163A>G	ENSP00000432885.1:p.Lys55Glu
ENST00000631044.2:c.*2503A>G	ENSP00000486730.1:n.*2503A>G
NM_001126131.1:c.3079A>G	NP_001119603.1:p.Lys1027Glu
NM_002693.2:c.3079A>G	NP_002684.1:p.Lys1027Glu
NM_001126131.2:c.3079A>G	NP_001119603.1:p.Lys1027Glu
NM_002693.3:c.3079A>G MANE Select	NP_002684.1:p.Lys1027Glu