Canonical Allele Identifier: CA393759426

Gene: POLG

Linked Data

• ClinVar Variation Id: 1371738
• ClinVar RCV Id: RCV001879138
• dbSNP Id: rs1596357095
• MyVariant Identifiers: chr15:g.89868874T>C (hg19) ; chr15:g.89325643T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325643T>C , CM000677.2:g.89325643T>C	GRCh38
NC_000015.9:g.89868874T>C , CM000677.1:g.89868874T>C	GRCh37
NC_000015.8:g.87669878T>C	NCBI36
NG_008218.1:g.14153A>G
NG_008218.2:g.14153A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1756A>G	ENSP00000516154.1:p.Thr586Ala
ENST00000268124.11:c.1756A>G MANE Select	ENSP00000268124.5:p.Thr586Ala
ENST00000530292.3:c.1357A>G	ENSP00000432885.2:p.Thr453Ala
ENST00000635986.2:c.1756A>G	ENSP00000490653.2:p.Thr586Ala
ENST00000636774.1:c.*323A>G	ENSP00000489799.1:n.*323A>G
ENST00000637238.1:c.493A>G	ENSP00000490756.1:p.Thr165Ala
ENST00000637264.1:c.828A>G
ENST00000666746.1:c.1333A>G
ENST00000670281.1:c.76A>G	ENSP00000499709.1:p.Thr26Ala
ENST00000672071.1:n.1954A>G
ENST00000672923.2:n.1859A>G
ENST00000268124.9:c.1756A>G	ENSP00000268124.5:p.Thr586Ala
ENST00000442287.6:c.1756A>G	ENSP00000399851.2:p.Thr586Ala
ENST00000526314.2:c.138A>G
ENST00000631044.2:c.*1139A>G	ENSP00000486730.1:n.*1139A>G
NM_001126131.1:c.1756A>G	NP_001119603.1:p.Thr586Ala
NM_002693.2:c.1756A>G	NP_002684.1:p.Thr586Ala
NM_001126131.2:c.1756A>G	NP_001119603.1:p.Thr586Ala
NM_002693.3:c.1756A>G MANE Select	NP_002684.1:p.Thr586Ala