Canonical Allele Identifier: CA7724541

Gene: POLG

Linked Data

• ClinVar Variation Id: 258790
• ClinVar RCV Id: RCV002313981
• dbSNP Id: rs141538857
• ExAC: 15:89866680 G / A
• gnomAD v2: 15-89866680-G-A
• gnomAD v3: 15-89323449-G-A
• gnomAD v4: 15-89323449-G-A
• MyVariant Identifiers: chr15:g.89866680G>A (hg19) ; chr15:g.89323449G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323449G>A , CM000677.2:g.89323449G>A	GRCh38
NC_000015.9:g.89866680G>A , CM000677.1:g.89866680G>A	GRCh37
NC_000015.8:g.87667684G>A	NCBI36
NG_008218.1:g.16347C>T
NG_008218.2:g.16347C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.2220C>T	ENSP00000516154.1:p.Asn740=
ENST00000268124.11:c.2220C>T MANE Select	ENSP00000268124.5:p.Asn740=
ENST00000530292.3:c.1821C>T	ENSP00000432885.2:p.Asn607=
ENST00000635986.2:c.2220C>T	ENSP00000490653.2:p.Asn740=
ENST00000636774.1:c.*787C>T	ENSP00000489799.1:n.*787C>T
ENST00000637238.1:c.917C>T	ENSP00000490756.1:n.917C>T
ENST00000637264.1:c.1292C>T
ENST00000666746.1:c.1797C>T
ENST00000670281.1:c.540C>T	ENSP00000499709.1:p.Asn180=
ENST00000672071.1:n.2418C>T
ENST00000672923.2:n.2323C>T
ENST00000268124.9:c.2220C>T	ENSP00000268124.5:p.Asn740=
ENST00000442287.6:c.2220C>T	ENSP00000399851.2:p.Asn740=
ENST00000526314.2:c.539+366C>T
ENST00000526398.1:c.369C>T
ENST00000532584.5:n.422C>T
ENST00000631044.2:c.*1644C>T	ENSP00000486730.1:n.*1644C>T
NM_001126131.1:c.2220C>T	NP_001119603.1:p.Asn740=
NM_002693.2:c.2220C>T	NP_002684.1:p.Asn740=
NM_001126131.2:c.2220C>T	NP_001119603.1:p.Asn740=
NM_002693.3:c.2220C>T MANE Select	NP_002684.1:p.Asn740=