Canonical Allele Identifier: CA393753074

Gene: POLG

Linked Data

• ClinVar Variation Id: 2693242
• ClinVar RCV Id: RCV003514676
• dbSNP Id: rs1596352071
• MyVariant Identifiers: chr15:g.89864180C>T (hg19) ; chr15:g.89320949C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89320949C>T , CM000677.2:g.89320949C>T	GRCh38
NC_000015.9:g.89864180C>T , CM000677.1:g.89864180C>T	GRCh37
NC_000015.8:g.87665184C>T	NCBI36
NG_008218.1:g.18847G>A
NG_008218.2:g.18847G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2798G>A	ENSP00000516154.1:p.Ser933Asn
ENST00000268124.11:c.2798G>A MANE Select	ENSP00000268124.5:p.Ser933Asn
ENST00000530292.3:c.2399G>A	ENSP00000432885.2:p.Ser800Asn
ENST00000635986.2:c.2798G>A	ENSP00000490653.2:p.Ser933Asn
ENST00000636774.1:c.*1365G>A	ENSP00000489799.1:n.*1365G>A
ENST00000637238.1:c.1607G>A	ENSP00000490756.1:n.1607G>A
ENST00000637264.1:c.1870G>A
ENST00000666746.1:c.2375G>A
ENST00000670281.1:c.800+1013G>A	ENSP00000499709.1:n.800+1013G>A
ENST00000672071.1:n.2996G>A
ENST00000672923.2:n.2740G>A
ENST00000268124.9:c.2798G>A	ENSP00000268124.5:p.Ser933Asn
ENST00000442287.6:c.2798G>A	ENSP00000399851.2:p.Ser933Asn
ENST00000528881.2:c.395G>A
ENST00000530715.5:c.186-80G>A	ENSP00000431395.1:n.186-80G>A
ENST00000631044.2:c.*2222G>A	ENSP00000486730.1:n.*2222G>A
NM_001126131.1:c.2798G>A	NP_001119603.1:p.Ser933Asn
NM_002693.2:c.2798G>A	NP_002684.1:p.Ser933Asn
NM_001126131.2:c.2798G>A	NP_001119603.1:p.Ser933Asn
NM_002693.3:c.2798G>A MANE Select	NP_002684.1:p.Ser933Asn