Canonical Allele Identifier: CA10602201

Gene: POLG

Linked Data

• ClinVar Variation Id: 372694
• ClinVar RCV Id: RCV000413337 ; RCV000557537 ; RCV001805034
• dbSNP Id: rs371334941
• gnomAD v4: 15-89325636-C-T
• MyVariant Identifiers: chr15:g.89868867C>T (hg19) ; chr15:g.89325636C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325636C>T , CM000677.2:g.89325636C>T	GRCh38
NC_000015.9:g.89868867C>T , CM000677.1:g.89868867C>T	GRCh37
NC_000015.8:g.87669871C>T	NCBI36
NG_008218.1:g.14160G>A
NG_008218.2:g.14160G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.1763G>A	ENSP00000516154.1:p.Gly588Asp
ENST00000268124.11:c.1763G>A MANE Select	ENSP00000268124.5:p.Gly588Asp
ENST00000530292.3:c.1364G>A	ENSP00000432885.2:p.Gly455Asp
ENST00000635986.2:c.1763G>A	ENSP00000490653.2:p.Gly588Asp
ENST00000636774.1:c.*330G>A	ENSP00000489799.1:n.*330G>A
ENST00000637238.1:c.500G>A	ENSP00000490756.1:p.Gly167Asp
ENST00000637264.1:c.835G>A
ENST00000666746.1:c.1340G>A
ENST00000670281.1:c.83G>A	ENSP00000499709.1:p.Gly28Asp
ENST00000672071.1:n.1961G>A
ENST00000672923.2:n.1866G>A
ENST00000268124.9:c.1763G>A	ENSP00000268124.5:p.Gly588Asp
ENST00000442287.6:c.1763G>A	ENSP00000399851.2:p.Gly588Asp
ENST00000526314.2:c.145G>A
ENST00000631044.2:c.*1146G>A	ENSP00000486730.1:n.*1146G>A
NM_001126131.1:c.1763G>A	NP_001119603.1:p.Gly588Asp
NM_002693.2:c.1763G>A	NP_002684.1:p.Gly588Asp
NM_001126131.2:c.1763G>A	NP_001119603.1:p.Gly588Asp
NM_002693.3:c.1763G>A MANE Select	NP_002684.1:p.Gly588Asp