Canonical Allele Identifier: CA7724540

Gene: POLG

Linked Data

• ClinVar Variation Id: 458702
• ClinVar RCV Id: RCV002431554 ; RCV003330754
• dbSNP Id: rs751736420
• ExAC: 15:89866679 C / T
• gnomAD v2: 15-89866679-C-T
• gnomAD v3: 15-89323448-C-T
• gnomAD v4: 15-89323448-C-T
• MyVariant Identifiers: chr15:g.89866679C>T (hg19) ; chr15:g.89323448C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323448C>T , CM000677.2:g.89323448C>T	GRCh38
NC_000015.9:g.89866679C>T , CM000677.1:g.89866679C>T	GRCh37
NC_000015.8:g.87667683C>T	NCBI36
NG_008218.1:g.16348G>A
NG_008218.2:g.16348G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.2221G>A	ENSP00000516154.1:p.Asp741Asn
ENST00000268124.11:c.2221G>A MANE Select	ENSP00000268124.5:p.Asp741Asn
ENST00000530292.3:c.1822G>A	ENSP00000432885.2:p.Asp608Asn
ENST00000635986.2:c.2221G>A	ENSP00000490653.2:p.Asp741Asn
ENST00000636774.1:c.*788G>A	ENSP00000489799.1:n.*788G>A
ENST00000637238.1:c.918G>A	ENSP00000490756.1:n.918G>A
ENST00000637264.1:c.1293G>A
ENST00000666746.1:c.1798G>A
ENST00000670281.1:c.541G>A	ENSP00000499709.1:p.Asp181Asn
ENST00000672071.1:n.2419G>A
ENST00000672923.2:n.2324G>A
ENST00000268124.9:c.2221G>A	ENSP00000268124.5:p.Asp741Asn
ENST00000442287.6:c.2221G>A	ENSP00000399851.2:p.Asp741Asn
ENST00000526314.2:c.539+367G>A
ENST00000526398.1:c.370G>A
ENST00000532584.5:n.423G>A
ENST00000631044.2:c.*1645G>A	ENSP00000486730.1:n.*1645G>A
NM_001126131.1:c.2221G>A	NP_001119603.1:p.Asp741Asn
NM_002693.2:c.2221G>A	NP_002684.1:p.Asp741Asn
NM_001126131.2:c.2221G>A	NP_001119603.1:p.Asp741Asn
NM_002693.3:c.2221G>A MANE Select	NP_002684.1:p.Asp741Asn