Canonical Allele Identifier: CA393747336

Gene: POLG

Linked Data

• ClinVar Variation Id: 1054943
• ClinVar RCV Id: RCV001363537
• dbSNP Id: rs2152056239
• MyVariant Identifiers: chr15:g.89860645T>G (hg19) ; chr15:g.89317414T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317414T>G , CM000677.2:g.89317414T>G	GRCh38
NC_000015.9:g.89860645T>G , CM000677.1:g.89860645T>G	GRCh37
NC_000015.8:g.87661649T>G	NCBI36
NG_008218.1:g.22382A>C
NG_011736.1:g.78452T>G , LRG_500:g.78452T>G
NG_008218.2:g.22382A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3605A>C	ENSP00000516154.1:p.Asn1202Thr
ENST00000268124.11:c.3605A>C MANE Select	ENSP00000268124.5:p.Asn1202Thr
ENST00000530292.3:c.3305A>C	ENSP00000432885.2:n.3305A>C
ENST00000635986.2:c.*675A>C	ENSP00000490653.2:n.*675A>C
ENST00000636774.1:c.*2209A>C	ENSP00000489799.1:n.*2209A>C
ENST00000637238.1:c.2513A>C	ENSP00000490756.1:n.2513A>C
ENST00000637264.1:c.2617A>C
ENST00000666746.1:c.3182A>C
ENST00000672071.1:n.4807A>C
ENST00000672695.1:n.1384A>C
ENST00000672923.2:n.3605A>C
ENST00000268124.9:c.3605A>C	ENSP00000268124.5:p.Asn1202Thr
ENST00000442287.6:c.3605A>C	ENSP00000399851.2:p.Asn1202Thr
ENST00000526671.1:n.415A>C
ENST00000530292.2:c.788A>C	ENSP00000432885.1:n.788A>C
ENST00000631044.2:c.*3029A>C	ENSP00000486730.1:n.*3029A>C
NM_001126131.1:c.3605A>C	NP_001119603.1:p.Asn1202Thr
NM_002693.2:c.3605A>C	NP_002684.1:p.Asn1202Thr
NM_001126131.2:c.3605A>C	NP_001119603.1:p.Asn1202Thr
NM_002693.3:c.3605A>C MANE Select	NP_002684.1:p.Asn1202Thr