Canonical Allele Identifier: CA393756715

Gene: POLG

Linked Data

• gnomAD v4: 15-89323446-G-C
• MyVariant Identifiers: chr15:g.89866677G>C (hg19) ; chr15:g.89323446G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323446G>C , CM000677.2:g.89323446G>C	GRCh38
NC_000015.9:g.89866677G>C , CM000677.1:g.89866677G>C	GRCh37
NC_000015.8:g.87667681G>C	NCBI36
NG_008218.1:g.16350C>G
NG_008218.2:g.16350C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.2223C>G	ENSP00000516154.1:p.Asp741Glu
ENST00000268124.11:c.2223C>G MANE Select	ENSP00000268124.5:p.Asp741Glu
ENST00000530292.3:c.1824C>G	ENSP00000432885.2:p.Asp608Glu
ENST00000635986.2:c.2223C>G	ENSP00000490653.2:p.Asp741Glu
ENST00000636774.1:c.*790C>G	ENSP00000489799.1:n.*790C>G
ENST00000637238.1:c.920C>G	ENSP00000490756.1:n.920C>G
ENST00000637264.1:c.1295C>G
ENST00000666746.1:c.1800C>G
ENST00000670281.1:c.543C>G	ENSP00000499709.1:p.Asp181Glu
ENST00000672071.1:n.2421C>G
ENST00000672923.2:n.2326C>G
ENST00000268124.9:c.2223C>G	ENSP00000268124.5:p.Asp741Glu
ENST00000442287.6:c.2223C>G	ENSP00000399851.2:p.Asp741Glu
ENST00000526314.2:c.539+369C>G
ENST00000526398.1:c.372C>G
ENST00000532584.5:n.425C>G
ENST00000631044.2:c.*1647C>G	ENSP00000486730.1:n.*1647C>G
NM_001126131.1:c.2223C>G	NP_001119603.1:p.Asp741Glu
NM_002693.2:c.2223C>G	NP_002684.1:p.Asp741Glu
NM_001126131.2:c.2223C>G	NP_001119603.1:p.Asp741Glu
NM_002693.3:c.2223C>G MANE Select	NP_002684.1:p.Asp741Glu