Canonical Allele Identifier: CA393754145

Gene: POLG

Linked Data

• ClinVar Variation Id: 2757345
• ClinVar RCV Id: RCV003515164
• gnomAD v4: 15-89321740-G-A
• COSMIC: COSM2015376
• MyVariant Identifiers: chr15:g.89864971G>A (hg19) ; chr15:g.89321740G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89321740G>A , CM000677.2:g.89321740G>A	GRCh38
NC_000015.9:g.89864971G>A , CM000677.1:g.89864971G>A	GRCh37
NC_000015.8:g.87665975G>A	NCBI36
NG_008218.1:g.18056C>T
NG_008218.2:g.18056C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2594C>T	ENSP00000516154.1:p.Ala865Val
ENST00000268124.11:c.2594C>T MANE Select	ENSP00000268124.5:p.Ala865Val
ENST00000530292.3:c.2195C>T	ENSP00000432885.2:p.Ala732Val
ENST00000635986.2:c.2594C>T	ENSP00000490653.2:p.Ala865Val
ENST00000636774.1:c.*1161C>T	ENSP00000489799.1:n.*1161C>T
ENST00000637238.1:c.1291C>T	ENSP00000490756.1:n.1291C>T
ENST00000637264.1:c.1666C>T
ENST00000666746.1:c.2171C>T
ENST00000670281.1:c.800+222C>T	ENSP00000499709.1:n.800+222C>T
ENST00000672071.1:n.2792C>T
ENST00000672923.2:n.2536C>T
ENST00000268124.9:c.2594C>T	ENSP00000268124.5:p.Ala865Val
ENST00000442287.6:c.2594C>T	ENSP00000399851.2:p.Ala865Val
ENST00000528881.2:c.196-480C>T
ENST00000530715.5:c.186-871C>T	ENSP00000431395.1:n.186-871C>T
ENST00000631044.2:c.*2018C>T	ENSP00000486730.1:n.*2018C>T
NM_001126131.1:c.2594C>T	NP_001119603.1:p.Ala865Val
NM_002693.2:c.2594C>T	NP_002684.1:p.Ala865Val
NM_001126131.2:c.2594C>T	NP_001119603.1:p.Ala865Val
NM_002693.3:c.2594C>T MANE Select	NP_002684.1:p.Ala865Val