Canonical Allele Identifier: CA7724554

Gene: POLG

Linked Data

• ClinVar Variation Id: 961408
• ClinVar RCV Id: RCV001235092 ; RCV002567897
• dbSNP Id: rs762070650
• ExAC: 15:89866733 C / G
• gnomAD v2: 15-89866733-C-G
• gnomAD v3: 15-89323502-C-G
• gnomAD v4: 15-89323502-C-G
• MyVariant Identifiers: chr15:g.89866733C>G (hg19) ; chr15:g.89323502C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323502C>G , CM000677.2:g.89323502C>G	GRCh38
NC_000015.9:g.89866733C>G , CM000677.1:g.89866733C>G	GRCh37
NC_000015.8:g.87667737C>G	NCBI36
NG_008218.1:g.16294G>C
NG_008218.2:g.16294G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2167G>C	ENSP00000516154.1:p.Gly723Arg
ENST00000268124.11:c.2167G>C MANE Select	ENSP00000268124.5:p.Gly723Arg
ENST00000530292.3:c.1768G>C	ENSP00000432885.2:p.Gly590Arg
ENST00000635986.2:c.2167G>C	ENSP00000490653.2:p.Gly723Arg
ENST00000636774.1:c.*734G>C	ENSP00000489799.1:n.*734G>C
ENST00000637238.1:c.864G>C	ENSP00000490756.1:n.864G>C
ENST00000637264.1:c.1239G>C
ENST00000666746.1:c.1744G>C
ENST00000670281.1:c.487G>C	ENSP00000499709.1:p.Gly163Arg
ENST00000672071.1:n.2365G>C
ENST00000672923.2:n.2270G>C
ENST00000268124.9:c.2167G>C	ENSP00000268124.5:p.Gly723Arg
ENST00000442287.6:c.2167G>C	ENSP00000399851.2:p.Gly723Arg
ENST00000526314.2:c.539+313G>C
ENST00000526398.1:c.316G>C
ENST00000532584.5:n.369G>C
ENST00000631044.2:c.*1591G>C	ENSP00000486730.1:n.*1591G>C
NM_001126131.1:c.2167G>C	NP_001119603.1:p.Gly723Arg
NM_002693.2:c.2167G>C	NP_002684.1:p.Gly723Arg
NM_001126131.2:c.2167G>C	NP_001119603.1:p.Gly723Arg
NM_002693.3:c.2167G>C MANE Select	NP_002684.1:p.Gly723Arg