Canonical Allele Identifier: CA492289266

Gene: POLG

Linked Data

• ClinVar Variation Id: 458697
• ClinVar RCV Id: RCV000545151 ; RCV000609746 ; RCV001848932
• dbSNP Id: rs765506021
• gnomAD v4: 15-89325527-C-T
• MyVariant Identifiers: chr15:g.89868758C>T (hg19) ; chr15:g.89325527C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325527C>T , CM000677.2:g.89325527C>T	GRCh38
NC_000015.9:g.89868758C>T , CM000677.1:g.89868758C>T	GRCh37
NC_000015.8:g.87669762C>T	NCBI36
NG_008218.1:g.14269G>A
NG_008218.2:g.14269G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1872G>A	ENSP00000516154.1:p.Val624=
ENST00000268124.11:c.1872G>A MANE Select	ENSP00000268124.5:p.Val624=
ENST00000530292.3:c.1473G>A	ENSP00000432885.2:p.Val491=
ENST00000635986.2:c.1872G>A	ENSP00000490653.2:p.Val624=
ENST00000636774.1:c.*439G>A	ENSP00000489799.1:n.*439G>A
ENST00000637238.1:c.609G>A	ENSP00000490756.1:p.Val203=
ENST00000637264.1:c.944G>A
ENST00000666746.1:c.1449G>A
ENST00000670281.1:c.192G>A	ENSP00000499709.1:p.Val64=
ENST00000672071.1:n.2070G>A
ENST00000672923.2:n.1975G>A
ENST00000268124.9:c.1872G>A	ENSP00000268124.5:p.Val624=
ENST00000442287.6:c.1872G>A	ENSP00000399851.2:p.Val624=
ENST00000526314.2:c.254G>A
ENST00000526398.1:c.61G>A
ENST00000532584.5:n.74G>A
ENST00000631044.2:c.*1255G>A	ENSP00000486730.1:n.*1255G>A
NM_001126131.1:c.1872G>A	NP_001119603.1:p.Val624=
NM_002693.2:c.1872G>A	NP_002684.1:p.Val624=
NM_001126131.2:c.1872G>A	NP_001119603.1:p.Val624=
NM_002693.3:c.1872G>A MANE Select	NP_002684.1:p.Val624=