Canonical Allele Identifier: CA256887

Gene: POLG

Linked Data

• ClinVar Variation Id: 13499
• ClinVar RCV Id: RCV000014446 ; RCV001382679 ; RCV001781264 ; RCV004525852 ; RCV004541004
• dbSNP Id: rs121918046
• gnomAD v2: 15-89868751-G-A
• gnomAD v3: 15-89325520-G-A
• gnomAD v4: 15-89325520-G-A
• COSMIC: COSM1735543
• MyVariant Identifiers: chr15:g.89868751G>A (hg19) ; chr15:g.89325520G>A (hg38)
• PubMed: PMID:12565911

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325520G>A , CM000677.2:g.89325520G>A	GRCh38
NC_000015.9:g.89868751G>A , CM000677.1:g.89868751G>A	GRCh37
NC_000015.8:g.87669755G>A	NCBI36
NG_008218.1:g.14276C>T
NG_008218.2:g.14276C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1879C>T	ENSP00000516154.1:p.Arg627Trp
ENST00000268124.11:c.1879C>T MANE Select	ENSP00000268124.5:p.Arg627Trp
ENST00000530292.3:c.1480C>T	ENSP00000432885.2:p.Arg494Trp
ENST00000635986.2:c.1879C>T	ENSP00000490653.2:p.Arg627Trp
ENST00000636774.1:c.*446C>T	ENSP00000489799.1:n.*446C>T
ENST00000637238.1:c.616C>T	ENSP00000490756.1:p.Arg206Trp
ENST00000637264.1:c.951C>T
ENST00000666746.1:c.1456C>T
ENST00000670281.1:c.199C>T	ENSP00000499709.1:p.Arg67Trp
ENST00000672071.1:n.2077C>T
ENST00000672923.2:n.1982C>T
ENST00000268124.9:c.1879C>T	ENSP00000268124.5:p.Arg627Trp
ENST00000442287.6:c.1879C>T	ENSP00000399851.2:p.Arg627Trp
ENST00000526314.2:c.261C>T
ENST00000526398.1:c.68C>T
ENST00000532584.5:n.81C>T
ENST00000631044.2:c.*1262C>T	ENSP00000486730.1:n.*1262C>T
NM_001126131.1:c.1879C>T	NP_001119603.1:p.Arg627Trp
NM_002693.2:c.1879C>T	NP_002684.1:p.Arg627Trp
NM_001126131.2:c.1879C>T	NP_001119603.1:p.Arg627Trp
NM_002693.3:c.1879C>T MANE Select	NP_002684.1:p.Arg627Trp