Canonical Allele Identifier: CA7724543

Gene: POLG

Linked Data

• ClinVar Variation Id: 594491
• ClinVar RCV Id: RCV000729789
• dbSNP Id: rs121918054
• ExAC: 15:89866691 C / T
• gnomAD v2: 15-89866691-C-T
• gnomAD v4: 15-89323460-C-T
• MyVariant Identifiers: chr15:g.89866691C>T (hg19) ; chr15:g.89323460C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323460C>T , CM000677.2:g.89323460C>T	GRCh38
NC_000015.9:g.89866691C>T , CM000677.1:g.89866691C>T	GRCh37
NC_000015.8:g.87667695C>T	NCBI36
NG_008218.1:g.16336G>A
NG_008218.2:g.16336G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2209G>A	ENSP00000516154.1:p.Gly737Arg
ENST00000268124.11:c.2209G>A MANE Select	ENSP00000268124.5:p.Gly737Arg
ENST00000530292.3:c.1810G>A	ENSP00000432885.2:p.Gly604Arg
ENST00000635986.2:c.2209G>A	ENSP00000490653.2:p.Gly737Arg
ENST00000636774.1:c.*776G>A	ENSP00000489799.1:n.*776G>A
ENST00000637238.1:c.906G>A	ENSP00000490756.1:n.906G>A
ENST00000637264.1:c.1281G>A
ENST00000666746.1:c.1786G>A
ENST00000670281.1:c.529G>A	ENSP00000499709.1:p.Gly177Arg
ENST00000672071.1:n.2407G>A
ENST00000672923.2:n.2312G>A
ENST00000268124.9:c.2209G>A	ENSP00000268124.5:p.Gly737Arg
ENST00000442287.6:c.2209G>A	ENSP00000399851.2:p.Gly737Arg
ENST00000526314.2:c.539+355G>A
ENST00000526398.1:c.358G>A
ENST00000532584.5:n.411G>A
ENST00000631044.2:c.*1633G>A	ENSP00000486730.1:n.*1633G>A
NM_001126131.1:c.2209G>A	NP_001119603.1:p.Gly737Arg
NM_002693.2:c.2209G>A	NP_002684.1:p.Gly737Arg
NM_001126131.2:c.2209G>A	NP_001119603.1:p.Gly737Arg
NM_002693.3:c.2209G>A MANE Select	NP_002684.1:p.Gly737Arg