Canonical Allele Identifier: CA393751206

Gene: POLG

Linked Data

• ClinVar Variation Id: 1383575
• ClinVar RCV Id: RCV001892703
• dbSNP Id: rs2152059459
• MyVariant Identifiers: chr15:g.89862320T>C (hg19) ; chr15:g.89319089T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89319089T>C , CM000677.2:g.89319089T>C	GRCh38
NC_000015.9:g.89862320T>C , CM000677.1:g.89862320T>C	GRCh37
NC_000015.8:g.87663324T>C	NCBI36
NG_008218.1:g.20707A>G
NG_011736.1:g.80127T>C , LRG_500:g.80127T>C
NG_008218.2:g.20707A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3115A>G	ENSP00000516154.1:p.Lys1039Glu
ENST00000268124.11:c.3115A>G MANE Select	ENSP00000268124.5:p.Lys1039Glu
ENST00000530292.3:c.2716A>G	ENSP00000432885.2:p.Lys906Glu
ENST00000635986.2:c.*185A>G	ENSP00000490653.2:n.*185A>G
ENST00000636530.1:n.75A>G
ENST00000636774.1:c.*1682A>G	ENSP00000489799.1:n.*1682A>G
ENST00000637238.1:c.1924A>G	ENSP00000490756.1:n.1924A>G
ENST00000637264.1:c.2187A>G
ENST00000666746.1:c.2692A>G
ENST00000672071.1:n.3313A>G
ENST00000672695.1:n.292A>G
ENST00000672923.2:n.3115A>G
ENST00000268124.9:c.3115A>G	ENSP00000268124.5:p.Lys1039Glu
ENST00000442287.6:c.3115A>G	ENSP00000399851.2:p.Lys1039Glu
ENST00000530292.2:c.199A>G	ENSP00000432885.1:p.Lys67Glu
ENST00000631044.2:c.*2539A>G	ENSP00000486730.1:n.*2539A>G
NM_001126131.1:c.3115A>G	NP_001119603.1:p.Lys1039Glu
NM_002693.2:c.3115A>G	NP_002684.1:p.Lys1039Glu
NM_001126131.2:c.3115A>G	NP_001119603.1:p.Lys1039Glu
NM_002693.3:c.3115A>G MANE Select	NP_002684.1:p.Lys1039Glu