Canonical Allele Identifier: CA16607897

Gene: POLG

Linked Data

• ClinVar Variation Id: 391876
• ClinVar RCV Id: RCV000431757
• dbSNP Id: rs1057524270
• MyVariant Identifiers: chr15:g.89861914C>T (hg19) ; chr15:g.89318683C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318683C>T , CM000677.2:g.89318683C>T	GRCh38
NC_000015.9:g.89861914C>T , CM000677.1:g.89861914C>T	GRCh37
NC_000015.8:g.87662918C>T	NCBI36
NG_008218.1:g.21113G>A
NG_011736.1:g.79721C>T , LRG_500:g.79721C>T
NG_008218.2:g.21113G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3340G>A	ENSP00000516154.1:p.Val1114Met
ENST00000268124.11:c.3340G>A MANE Select	ENSP00000268124.5:p.Val1114Met
ENST00000530292.3:c.2941G>A	ENSP00000432885.2:p.Val981Met
ENST00000635986.2:c.*410G>A	ENSP00000490653.2:n.*410G>A
ENST00000636774.1:c.*1907G>A	ENSP00000489799.1:n.*1907G>A
ENST00000637238.1:c.2149G>A	ENSP00000490756.1:n.2149G>A
ENST00000637264.1:c.2412G>A
ENST00000666746.1:c.2917G>A
ENST00000672071.1:n.3538G>A
ENST00000672695.1:n.517G>A
ENST00000672923.2:n.3340G>A
ENST00000268124.9:c.3340G>A	ENSP00000268124.5:p.Val1114Met
ENST00000442287.6:c.3340G>A	ENSP00000399851.2:p.Val1114Met
ENST00000530292.2:c.424G>A	ENSP00000432885.1:p.Val142Met
ENST00000631044.2:c.*2764G>A	ENSP00000486730.1:n.*2764G>A
NM_001126131.1:c.3340G>A	NP_001119603.1:p.Val1114Met
NM_002693.2:c.3340G>A	NP_002684.1:p.Val1114Met
NM_001126131.2:c.3340G>A	NP_001119603.1:p.Val1114Met
NM_002693.3:c.3340G>A MANE Select	NP_002684.1:p.Val1114Met