Canonical Allele Identifier: CA7724495

Gene: POLG

Linked Data

• ClinVar Variation Id: 279982
• ClinVar RCV Id: RCV000261805 ; RCV000678828 ; RCV000547242 ; RCV000626194 ; RCV001263147
• dbSNP Id: rs769827124
• ExAC: 15:89865980 G / A
• gnomAD v2: 15-89865980-G-A
• gnomAD v3: 15-89322749-G-A
• gnomAD v4: 15-89322749-G-A
• COSMIC: COSM1221462
• MyVariant Identifiers: chr15:g.89865980G>A (hg19) ; chr15:g.89322749G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89322749G>A , CM000677.2:g.89322749G>A	GRCh38
NC_000015.9:g.89865980G>A , CM000677.1:g.89865980G>A	GRCh37
NC_000015.8:g.87666984G>A	NCBI36
NG_008218.1:g.17047C>T
NG_008218.2:g.17047C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2419C>T	ENSP00000516154.1:p.Arg807Cys
ENST00000268124.11:c.2419C>T MANE Select	ENSP00000268124.5:p.Arg807Cys
ENST00000530292.3:c.2020C>T	ENSP00000432885.2:p.Arg674Cys
ENST00000635986.2:c.2419C>T	ENSP00000490653.2:p.Arg807Cys
ENST00000636774.1:c.*986C>T	ENSP00000489799.1:n.*986C>T
ENST00000637238.1:c.1116C>T	ENSP00000490756.1:n.1116C>T
ENST00000637264.1:c.1491C>T
ENST00000666746.1:c.1996C>T
ENST00000670281.1:c.739C>T	ENSP00000499709.1:p.Arg247Cys
ENST00000672071.1:n.2617C>T
ENST00000672923.2:n.2368+655C>T
ENST00000268124.9:c.2419C>T	ENSP00000268124.5:p.Arg807Cys
ENST00000442287.6:c.2419C>T	ENSP00000399851.2:p.Arg807Cys
ENST00000526314.2:c.693C>T
ENST00000528881.2:c.188C>T
ENST00000530715.5:c.178C>T	ENSP00000431395.1:p.Arg60Cys
ENST00000532584.5:n.467+655C>T
ENST00000631044.2:c.*1843C>T	ENSP00000486730.1:n.*1843C>T
NM_001126131.1:c.2419C>T	NP_001119603.1:p.Arg807Cys
NM_002693.2:c.2419C>T	NP_002684.1:p.Arg807Cys
NM_001126131.2:c.2419C>T	NP_001119603.1:p.Arg807Cys
NM_002693.3:c.2419C>T MANE Select	NP_002684.1:p.Arg807Cys