Canonical Allele Identifier: CA393760975

Gene: POLG

Linked Data

• ClinVar Variation Id: 1977793
• ClinVar RCV Id: RCV002774894
• MyVariant Identifiers: chr15:g.89870242T>C (hg19) ; chr15:g.89327011T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89327011T>C , CM000677.2:g.89327011T>C	GRCh38
NC_000015.9:g.89870242T>C , CM000677.1:g.89870242T>C	GRCh37
NC_000015.8:g.87671246T>C	NCBI36
NG_008218.1:g.12785A>G
NG_008218.2:g.12785A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.1486A>G	ENSP00000516154.1:p.Lys496Glu
ENST00000268124.11:c.1486A>G MANE Select	ENSP00000268124.5:p.Lys496Glu
ENST00000530292.3:c.1087A>G	ENSP00000432885.2:p.Lys363Glu
ENST00000635986.2:c.1486A>G	ENSP00000490653.2:p.Lys496Glu
ENST00000636774.1:c.*53A>G	ENSP00000489799.1:n.*53A>G
ENST00000637238.1:c.223A>G	ENSP00000490756.1:p.Lys75Glu
ENST00000637264.1:c.558A>G
ENST00000666746.1:c.1063A>G
ENST00000672071.1:n.1684A>G
ENST00000672923.2:n.1589A>G
ENST00000268124.9:c.1486A>G	ENSP00000268124.5:p.Lys496Glu
ENST00000442287.6:c.1486A>G	ENSP00000399851.2:p.Lys496Glu
ENST00000631044.2:c.*869A>G	ENSP00000486730.1:n.*869A>G
NM_001126131.1:c.1486A>G	NP_001119603.1:p.Lys496Glu
NM_002693.2:c.1486A>G	NP_002684.1:p.Lys496Glu
NM_001126131.2:c.1486A>G	NP_001119603.1:p.Lys496Glu
NM_002693.3:c.1486A>G MANE Select	NP_002684.1:p.Lys496Glu