Canonical Allele Identifier: CA393749977

Gene: POLG

Linked Data

• ClinVar Variation Id: 2878241
• ClinVar RCV Id: RCV003626467
• MyVariant Identifiers: chr15:g.89861926G>T (hg19) ; chr15:g.89318695G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318695G>T , CM000677.2:g.89318695G>T	GRCh38
NC_000015.9:g.89861926G>T , CM000677.1:g.89861926G>T	GRCh37
NC_000015.8:g.87662930G>T	NCBI36
NG_008218.1:g.21101C>A
NG_011736.1:g.79733G>T , LRG_500:g.79733G>T
NG_008218.2:g.21101C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3328C>A	ENSP00000516154.1:p.His1110Asn
ENST00000268124.11:c.3328C>A MANE Select	ENSP00000268124.5:p.His1110Asn
ENST00000530292.3:c.2929C>A	ENSP00000432885.2:p.His977Asn
ENST00000635986.2:c.*398C>A	ENSP00000490653.2:n.*398C>A
ENST00000636774.1:c.*1895C>A	ENSP00000489799.1:n.*1895C>A
ENST00000637238.1:c.2137C>A	ENSP00000490756.1:n.2137C>A
ENST00000637264.1:c.2400C>A
ENST00000666746.1:c.2905C>A
ENST00000672071.1:n.3526C>A
ENST00000672695.1:n.505C>A
ENST00000672923.2:n.3328C>A
ENST00000268124.9:c.3328C>A	ENSP00000268124.5:p.His1110Asn
ENST00000442287.6:c.3328C>A	ENSP00000399851.2:p.His1110Asn
ENST00000530292.2:c.412C>A	ENSP00000432885.1:p.His138Asn
ENST00000631044.2:c.*2752C>A	ENSP00000486730.1:n.*2752C>A
NM_001126131.1:c.3328C>A	NP_001119603.1:p.His1110Asn
NM_002693.2:c.3328C>A	NP_002684.1:p.His1110Asn
NM_001126131.2:c.3328C>A	NP_001119603.1:p.His1110Asn
NM_002693.3:c.3328C>A MANE Select	NP_002684.1:p.His1110Asn