Canonical Allele Identifier: CA7724697

Gene: POLG

Linked Data

• ClinVar Variation Id: 588951
• ClinVar RCV Id: RCV000733389 ; RCV000758295 ; RCV002315444 ; RCV003323700
• dbSNP Id: rs746406535
• ExAC: 15:89868894 C / T
• gnomAD v2: 15-89868894-C-T
• gnomAD v3: 15-89325663-C-T
• gnomAD v4: 15-89325663-C-T
• MyVariant Identifiers: chr15:g.89868894C>T (hg19) ; chr15:g.89868894_89868895delinsTG (hg19) ; chr15:g.89325663C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325663C>T , CM000677.2:g.89325663C>T	GRCh38
NC_000015.9:g.89868894C>T , CM000677.1:g.89868894C>T	GRCh37
NC_000015.8:g.87669898C>T	NCBI36
NG_008218.1:g.14133G>A
NG_008218.2:g.14133G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1736G>A	ENSP00000516154.1:p.Arg579Gln
ENST00000268124.11:c.1736G>A MANE Select	ENSP00000268124.5:p.Arg579Gln
ENST00000530292.3:c.1337G>A	ENSP00000432885.2:p.Arg446Gln
ENST00000635986.2:c.1736G>A	ENSP00000490653.2:p.Arg579Gln
ENST00000636774.1:c.*303G>A	ENSP00000489799.1:n.*303G>A
ENST00000637238.1:c.473G>A	ENSP00000490756.1:p.Arg158Gln
ENST00000637264.1:c.808G>A
ENST00000666746.1:c.1313G>A
ENST00000670281.1:c.56G>A	ENSP00000499709.1:p.Arg19Gln
ENST00000672071.1:n.1934G>A
ENST00000672923.2:n.1839G>A
ENST00000268124.9:c.1736G>A	ENSP00000268124.5:p.Arg579Gln
ENST00000442287.6:c.1736G>A	ENSP00000399851.2:p.Arg579Gln
ENST00000526314.2:c.118G>A
ENST00000631044.2:c.*1119G>A	ENSP00000486730.1:n.*1119G>A
NM_001126131.1:c.1736G>A	NP_001119603.1:p.Arg579Gln
NM_002693.2:c.1736G>A	NP_002684.1:p.Arg579Gln
NM_001126131.2:c.1736G>A	NP_001119603.1:p.Arg579Gln
NM_002693.3:c.1736G>A MANE Select	NP_002684.1:p.Arg579Gln