Canonical Allele Identifier: CA10602275

Gene: POLG

Linked Data

• ClinVar Variation Id: 619377
• ClinVar RCV Id: RCV000758385
• dbSNP Id: rs1567185018
• MyVariant Identifiers: chr15:g.89861798G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318567G>C , CM000677.2:g.89318567G>C	GRCh38
NC_000015.9:g.89861798G>C , CM000677.1:g.89861798G>C	GRCh37
NC_000015.8:g.87662802G>C	NCBI36
NG_008218.1:g.21229C>G
NG_011736.1:g.79605G>C , LRG_500:g.79605G>C
NG_008218.2:g.21229C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3456C>G	ENSP00000516154.1:p.Ala1152=
ENST00000268124.11:c.3456C>G MANE Select	ENSP00000268124.5:p.Ala1152=
ENST00000530292.3:c.3057C>G	ENSP00000432885.2:p.Ala1019=
ENST00000635986.2:c.*526C>G	ENSP00000490653.2:n.*526C>G
ENST00000636774.1:c.*2023C>G	ENSP00000489799.1:n.*2023C>G
ENST00000637238.1:c.2265C>G	ENSP00000490756.1:n.2265C>G
ENST00000637264.1:c.2528C>G
ENST00000666746.1:c.3033C>G
ENST00000672071.1:n.3654C>G
ENST00000672695.1:n.633C>G
ENST00000672923.2:n.3456C>G
ENST00000268124.9:c.3456C>G	ENSP00000268124.5:p.Ala1152=
ENST00000442287.6:c.3456C>G	ENSP00000399851.2:p.Ala1152=
ENST00000530292.2:c.540C>G	ENSP00000432885.1:p.Ala180=
ENST00000631044.2:c.*2880C>G	ENSP00000486730.1:n.*2880C>G
NM_001126131.1:c.3456C>G	NP_001119603.1:p.Ala1152=
NM_002693.2:c.3456C>G	NP_002684.1:p.Ala1152=
NM_001126131.2:c.3456C>G	NP_001119603.1:p.Ala1152=
NM_002693.3:c.3456C>G MANE Select	NP_002684.1:p.Ala1152=