Canonical Allele Identifier: CA393747785

Gene: POLG

Linked Data

• ClinVar Variation Id: 2645685
• ClinVar RCV Id: RCV003403112
• dbSNP Id: rs2152056543
• MyVariant Identifiers: chr15:g.89860714A>C (hg19) ; chr15:g.89317483A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317483A>C , CM000677.2:g.89317483A>C	GRCh38
NC_000015.9:g.89860714A>C , CM000677.1:g.89860714A>C	GRCh37
NC_000015.8:g.87661718A>C	NCBI36
NG_008218.1:g.22313T>G
NG_011736.1:g.78521A>C , LRG_500:g.78521A>C
NG_008218.2:g.22313T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3536T>G	ENSP00000516154.1:p.Phe1179Cys
ENST00000268124.11:c.3536T>G MANE Select	ENSP00000268124.5:p.Phe1179Cys
ENST00000530292.3:c.3236T>G	ENSP00000432885.2:n.3236T>G
ENST00000635986.2:c.*606T>G	ENSP00000490653.2:n.*606T>G
ENST00000636774.1:c.*2140T>G	ENSP00000489799.1:n.*2140T>G
ENST00000637042.1:n.72-12T>G
ENST00000637238.1:c.2444T>G	ENSP00000490756.1:n.2444T>G
ENST00000637264.1:c.2555-7T>G
ENST00000666746.1:c.3113T>G
ENST00000672071.1:n.4738T>G
ENST00000672695.1:n.1315T>G
ENST00000672923.2:n.3536T>G
ENST00000268124.9:c.3536T>G	ENSP00000268124.5:p.Phe1179Cys
ENST00000442287.6:c.3536T>G	ENSP00000399851.2:p.Phe1179Cys
ENST00000526671.1:n.346T>G
ENST00000530292.2:c.719T>G	ENSP00000432885.1:n.719T>G
ENST00000631044.2:c.*2960T>G	ENSP00000486730.1:n.*2960T>G
NM_001126131.1:c.3536T>G	NP_001119603.1:p.Phe1179Cys
NM_002693.2:c.3536T>G	NP_002684.1:p.Phe1179Cys
NM_001126131.2:c.3536T>G	NP_001119603.1:p.Phe1179Cys
NM_002693.3:c.3536T>G MANE Select	NP_002684.1:p.Phe1179Cys