Canonical Allele Identifier: CA316683

Gene: POLG

Linked Data

• ClinVar Variation Id: 206519
• ClinVar RCV Id: RCV001372628 ; RCV002051721 ; RCV002317144 ; RCV003448281
• dbSNP Id: rs78347903
• ExAC: 15:89866682 T / C
• gnomAD v2: 15-89866682-T-C
• gnomAD v3: 15-89323451-T-C
• gnomAD v4: 15-89323451-T-C
• MyVariant Identifiers: chr15:g.89866682T>C (hg19) ; chr15:g.89323451T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323451T>C , CM000677.2:g.89323451T>C	GRCh38
NC_000015.9:g.89866682T>C , CM000677.1:g.89866682T>C	GRCh37
NC_000015.8:g.87667686T>C	NCBI36
NG_008218.1:g.16345A>G
NG_008218.2:g.16345A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.2218A>G	ENSP00000516154.1:p.Asn740Asp
ENST00000268124.11:c.2218A>G MANE Select	ENSP00000268124.5:p.Asn740Asp
ENST00000530292.3:c.1819A>G	ENSP00000432885.2:p.Asn607Asp
ENST00000635986.2:c.2218A>G	ENSP00000490653.2:p.Asn740Asp
ENST00000636774.1:c.*785A>G	ENSP00000489799.1:n.*785A>G
ENST00000637238.1:c.915A>G	ENSP00000490756.1:n.915A>G
ENST00000637264.1:c.1290A>G
ENST00000666746.1:c.1795A>G
ENST00000670281.1:c.538A>G	ENSP00000499709.1:p.Asn180Asp
ENST00000672071.1:n.2416A>G
ENST00000672923.2:n.2321A>G
ENST00000268124.9:c.2218A>G	ENSP00000268124.5:p.Asn740Asp
ENST00000442287.6:c.2218A>G	ENSP00000399851.2:p.Asn740Asp
ENST00000526314.2:c.539+364A>G
ENST00000526398.1:c.367A>G
ENST00000532584.5:n.420A>G
ENST00000631044.2:c.*1642A>G	ENSP00000486730.1:n.*1642A>G
NM_001126131.1:c.2218A>G	NP_001119603.1:p.Asn740Asp
NM_002693.2:c.2218A>G	NP_002684.1:p.Asn740Asp
NM_001126131.2:c.2218A>G	NP_001119603.1:p.Asn740Asp
NM_002693.3:c.2218A>G MANE Select	NP_002684.1:p.Asn740Asp