Canonical Allele Identifier: CA393754224

Gene: POLG

Linked Data

• ClinVar Variation Id: 1685028
• ClinVar RCV Id: RCV002248120
• dbSNP Id: rs2152061673
• MyVariant Identifiers: chr15:g.89864983G>A (hg19) ; chr15:g.89321752G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89321752G>A , CM000677.2:g.89321752G>A	GRCh38
NC_000015.9:g.89864983G>A , CM000677.1:g.89864983G>A	GRCh37
NC_000015.8:g.87665987G>A	NCBI36
NG_008218.1:g.18044C>T
NG_008218.2:g.18044C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2582C>T	ENSP00000516154.1:p.Thr861Ile
ENST00000268124.11:c.2582C>T MANE Select	ENSP00000268124.5:p.Thr861Ile
ENST00000530292.3:c.2183C>T	ENSP00000432885.2:p.Thr728Ile
ENST00000635986.2:c.2582C>T	ENSP00000490653.2:p.Thr861Ile
ENST00000636774.1:c.*1149C>T	ENSP00000489799.1:n.*1149C>T
ENST00000637238.1:c.1279C>T	ENSP00000490756.1:n.1279C>T
ENST00000637264.1:c.1654C>T
ENST00000666746.1:c.2159C>T
ENST00000670281.1:c.800+210C>T	ENSP00000499709.1:n.800+210C>T
ENST00000672071.1:n.2780C>T
ENST00000672923.2:n.2524C>T
ENST00000268124.9:c.2582C>T	ENSP00000268124.5:p.Thr861Ile
ENST00000442287.6:c.2582C>T	ENSP00000399851.2:p.Thr861Ile
ENST00000528881.2:c.196-492C>T
ENST00000530715.5:c.186-883C>T	ENSP00000431395.1:n.186-883C>T
ENST00000631044.2:c.*2006C>T	ENSP00000486730.1:n.*2006C>T
NM_001126131.1:c.2582C>T	NP_001119603.1:p.Thr861Ile
NM_002693.2:c.2582C>T	NP_002684.1:p.Thr861Ile
NM_001126131.2:c.2582C>T	NP_001119603.1:p.Thr861Ile
NM_002693.3:c.2582C>T MANE Select	NP_002684.1:p.Thr861Ile