Canonical Allele Identifier: CA393750174

Gene: POLG

Linked Data

• ClinVar Variation Id: 1699813
• ClinVar RCV Id: RCV002273670
• dbSNP Id: rs374224714
• MyVariant Identifiers: chr15:g.89861960A>C (hg19) ; chr15:g.89318729A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318729A>C , CM000677.2:g.89318729A>C	GRCh38
NC_000015.9:g.89861960A>C , CM000677.1:g.89861960A>C	GRCh37
NC_000015.8:g.87662964A>C	NCBI36
NG_008218.1:g.21067T>G
NG_011736.1:g.79767A>C , LRG_500:g.79767A>C
NG_008218.2:g.21067T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3294T>G	ENSP00000516154.1:p.Asn1098Lys
ENST00000268124.11:c.3294T>G MANE Select	ENSP00000268124.5:p.Asn1098Lys
ENST00000530292.3:c.2895T>G	ENSP00000432885.2:p.Asn965Lys
ENST00000635986.2:c.*364T>G	ENSP00000490653.2:n.*364T>G
ENST00000636774.1:c.*1861T>G	ENSP00000489799.1:n.*1861T>G
ENST00000637238.1:c.2103T>G	ENSP00000490756.1:n.2103T>G
ENST00000637264.1:c.2366T>G
ENST00000666746.1:c.2871T>G
ENST00000672071.1:n.3492T>G
ENST00000672695.1:n.471T>G
ENST00000672923.2:n.3294T>G
ENST00000268124.9:c.3294T>G	ENSP00000268124.5:p.Asn1098Lys
ENST00000442287.6:c.3294T>G	ENSP00000399851.2:p.Asn1098Lys
ENST00000530292.2:c.378T>G	ENSP00000432885.1:p.Asn126Lys
ENST00000631044.2:c.*2718T>G	ENSP00000486730.1:n.*2718T>G
NM_001126131.1:c.3294T>G	NP_001119603.1:p.Asn1098Lys
NM_002693.2:c.3294T>G	NP_002684.1:p.Asn1098Lys
NM_001126131.2:c.3294T>G	NP_001119603.1:p.Asn1098Lys
NM_002693.3:c.3294T>G MANE Select	NP_002684.1:p.Asn1098Lys