Canonical Allele Identifier: CA393750052

Gene: POLG

Linked Data

• ClinVar Variation Id: 2736247
• ClinVar RCV Id: RCV003516366
• dbSNP Id: rs1567185212
• MyVariant Identifiers: chr15:g.89861938C>T (hg19) ; chr15:g.89318707C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318707C>T , CM000677.2:g.89318707C>T	GRCh38
NC_000015.9:g.89861938C>T , CM000677.1:g.89861938C>T	GRCh37
NC_000015.8:g.87662942C>T	NCBI36
NG_008218.1:g.21089G>A
NG_011736.1:g.79745C>T , LRG_500:g.79745C>T
NG_008218.2:g.21089G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3316G>A	ENSP00000516154.1:p.Val1106Ile
ENST00000268124.11:c.3316G>A MANE Select	ENSP00000268124.5:p.Val1106Ile
ENST00000530292.3:c.2917G>A	ENSP00000432885.2:p.Val973Ile
ENST00000635986.2:c.*386G>A	ENSP00000490653.2:n.*386G>A
ENST00000636774.1:c.*1883G>A	ENSP00000489799.1:n.*1883G>A
ENST00000637238.1:c.2125G>A	ENSP00000490756.1:n.2125G>A
ENST00000637264.1:c.2388G>A
ENST00000666746.1:c.2893G>A
ENST00000672071.1:n.3514G>A
ENST00000672695.1:n.493G>A
ENST00000672923.2:n.3316G>A
ENST00000268124.9:c.3316G>A	ENSP00000268124.5:p.Val1106Ile
ENST00000442287.6:c.3316G>A	ENSP00000399851.2:p.Val1106Ile
ENST00000530292.2:c.400G>A	ENSP00000432885.1:p.Val134Ile
ENST00000631044.2:c.*2740G>A	ENSP00000486730.1:n.*2740G>A
NM_001126131.1:c.3316G>A	NP_001119603.1:p.Val1106Ile
NM_002693.2:c.3316G>A	NP_002684.1:p.Val1106Ile
NM_001126131.2:c.3316G>A	NP_001119603.1:p.Val1106Ile
NM_002693.3:c.3316G>A MANE Select	NP_002684.1:p.Val1106Ile