Canonical Allele Identifier: CA7724380

Gene: POLG

Linked Data

• ClinVar Variation Id: 2181583
• ClinVar RCV Id: RCV002606220
• dbSNP Id: rs770458126
• ExAC: 15:89864378 G / A
• gnomAD v2: 15-89864378-G-A
• gnomAD v3: 15-89321147-G-A
• gnomAD v4: 15-89321147-G-A
• COSMIC: COSM197745
• MyVariant Identifiers: chr15:g.89864378G>A (hg19) ; chr15:g.89321147G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89321147G>A , CM000677.2:g.89321147G>A	GRCh38
NC_000015.9:g.89864378G>A , CM000677.1:g.89864378G>A	GRCh37
NC_000015.8:g.87665382G>A	NCBI36
NG_008218.1:g.18649C>T
NG_008218.2:g.18649C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.2712C>T	ENSP00000516154.1:p.Asp904=
ENST00000268124.11:c.2712C>T MANE Select	ENSP00000268124.5:p.Asp904=
ENST00000530292.3:c.2313C>T	ENSP00000432885.2:p.Asp771=
ENST00000635986.2:c.2712C>T	ENSP00000490653.2:p.Asp904=
ENST00000636774.1:c.*1279C>T	ENSP00000489799.1:n.*1279C>T
ENST00000637238.1:c.1409C>T	ENSP00000490756.1:n.1409C>T
ENST00000637264.1:c.1784C>T
ENST00000666746.1:c.2289C>T
ENST00000670281.1:c.800+815C>T	ENSP00000499709.1:n.800+815C>T
ENST00000672071.1:n.2910C>T
ENST00000672923.2:n.2654C>T
ENST00000268124.9:c.2712C>T	ENSP00000268124.5:p.Asp904=
ENST00000442287.6:c.2712C>T	ENSP00000399851.2:p.Asp904=
ENST00000528881.2:c.309C>T
ENST00000530715.5:c.186-278C>T	ENSP00000431395.1:n.186-278C>T
ENST00000631044.2:c.*2136C>T	ENSP00000486730.1:n.*2136C>T
NM_001126131.1:c.2712C>T	NP_001119603.1:p.Asp904=
NM_002693.2:c.2712C>T	NP_002684.1:p.Asp904=
NM_001126131.2:c.2712C>T	NP_001119603.1:p.Asp904=
NM_002693.3:c.2712C>T MANE Select	NP_002684.1:p.Asp904=