Canonical Allele Identifier: CA393748093

Gene: POLG

Linked Data

• ClinVar Variation Id: 2721536
• ClinVar RCV Id: RCV003514033
• dbSNP Id: rs2055313165
• MyVariant Identifiers: chr15:g.89860750T>C (hg19) ; chr15:g.89317519T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317519T>C , CM000677.2:g.89317519T>C	GRCh38
NC_000015.9:g.89860750T>C , CM000677.1:g.89860750T>C	GRCh37
NC_000015.8:g.87661754T>C	NCBI36
NG_008218.1:g.22277A>G
NG_011736.1:g.78557T>C , LRG_500:g.78557T>C
NG_008218.2:g.22277A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3500A>G	ENSP00000516154.1:p.Lys1167Arg
ENST00000268124.11:c.3500A>G MANE Select	ENSP00000268124.5:p.Lys1167Arg
ENST00000530292.3:c.3200A>G	ENSP00000432885.2:n.3200A>G
ENST00000635986.2:c.*570A>G	ENSP00000490653.2:n.*570A>G
ENST00000636774.1:c.*2104A>G	ENSP00000489799.1:n.*2104A>G
ENST00000637042.1:n.72-48A>G
ENST00000637238.1:c.2408A>G	ENSP00000490756.1:n.2408A>G
ENST00000637264.1:c.2555-43A>G
ENST00000666746.1:c.3077A>G
ENST00000672071.1:n.4702A>G
ENST00000672695.1:n.1279A>G
ENST00000672923.2:n.3500A>G
ENST00000268124.9:c.3500A>G	ENSP00000268124.5:p.Lys1167Arg
ENST00000442287.6:c.3500A>G	ENSP00000399851.2:p.Lys1167Arg
ENST00000526671.1:n.310A>G
ENST00000530292.2:c.683A>G	ENSP00000432885.1:n.683A>G
ENST00000631044.2:c.*2924A>G	ENSP00000486730.1:n.*2924A>G
NM_001126131.1:c.3500A>G	NP_001119603.1:p.Lys1167Arg
NM_002693.2:c.3500A>G	NP_002684.1:p.Lys1167Arg
NM_001126131.2:c.3500A>G	NP_001119603.1:p.Lys1167Arg
NM_002693.3:c.3500A>G MANE Select	NP_002684.1:p.Lys1167Arg