Canonical Allele Identifier: CA393747889

Gene: POLG

Linked Data

• ClinVar Variation Id: 640666
• ClinVar RCV Id: RCV000793739
• dbSNP Id: rs188348569
• MyVariant Identifiers: chr15:g.89860726T>G (hg19) ; chr15:g.89317495T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317495T>G , CM000677.2:g.89317495T>G	GRCh38
NC_000015.9:g.89860726T>G , CM000677.1:g.89860726T>G	GRCh37
NC_000015.8:g.87661730T>G	NCBI36
NG_008218.1:g.22301A>C
NG_011736.1:g.78533T>G , LRG_500:g.78533T>G
NG_008218.2:g.22301A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3524A>C	ENSP00000516154.1:p.Gln1175Pro
ENST00000268124.11:c.3524A>C MANE Select	ENSP00000268124.5:p.Gln1175Pro
ENST00000530292.3:c.3224A>C	ENSP00000432885.2:n.3224A>C
ENST00000635986.2:c.*594A>C	ENSP00000490653.2:n.*594A>C
ENST00000636774.1:c.*2128A>C	ENSP00000489799.1:n.*2128A>C
ENST00000637042.1:n.72-24A>C
ENST00000637238.1:c.2432A>C	ENSP00000490756.1:n.2432A>C
ENST00000637264.1:c.2555-19A>C
ENST00000666746.1:c.3101A>C
ENST00000672071.1:n.4726A>C
ENST00000672695.1:n.1303A>C
ENST00000672923.2:n.3524A>C
ENST00000268124.9:c.3524A>C	ENSP00000268124.5:p.Gln1175Pro
ENST00000442287.6:c.3524A>C	ENSP00000399851.2:p.Gln1175Pro
ENST00000526671.1:n.334A>C
ENST00000530292.2:c.707A>C	ENSP00000432885.1:n.707A>C
ENST00000631044.2:c.*2948A>C	ENSP00000486730.1:n.*2948A>C
NM_001126131.1:c.3524A>C	NP_001119603.1:p.Gln1175Pro
NM_002693.2:c.3524A>C	NP_002684.1:p.Gln1175Pro
NM_001126131.2:c.3524A>C	NP_001119603.1:p.Gln1175Pro
NM_002693.3:c.3524A>C MANE Select	NP_002684.1:p.Gln1175Pro