Canonical Allele Identifier: CA393750112

Gene: POLG

Linked Data

• ClinVar Variation Id: 1918060
• ClinVar RCV Id: RCV002617170
• MyVariant Identifiers: chr15:g.89861949T>G (hg19) ; chr15:g.89318718T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318718T>G , CM000677.2:g.89318718T>G	GRCh38
NC_000015.9:g.89861949T>G , CM000677.1:g.89861949T>G	GRCh37
NC_000015.8:g.87662953T>G	NCBI36
NG_008218.1:g.21078A>C
NG_011736.1:g.79756T>G , LRG_500:g.79756T>G
NG_008218.2:g.21078A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3305A>C	ENSP00000516154.1:p.Gln1102Pro
ENST00000268124.11:c.3305A>C MANE Select	ENSP00000268124.5:p.Gln1102Pro
ENST00000530292.3:c.2906A>C	ENSP00000432885.2:p.Gln969Pro
ENST00000635986.2:c.*375A>C	ENSP00000490653.2:n.*375A>C
ENST00000636774.1:c.*1872A>C	ENSP00000489799.1:n.*1872A>C
ENST00000637238.1:c.2114A>C	ENSP00000490756.1:n.2114A>C
ENST00000637264.1:c.2377A>C
ENST00000666746.1:c.2882A>C
ENST00000672071.1:n.3503A>C
ENST00000672695.1:n.482A>C
ENST00000672923.2:n.3305A>C
ENST00000268124.9:c.3305A>C	ENSP00000268124.5:p.Gln1102Pro
ENST00000442287.6:c.3305A>C	ENSP00000399851.2:p.Gln1102Pro
ENST00000530292.2:c.389A>C	ENSP00000432885.1:p.Gln130Pro
ENST00000631044.2:c.*2729A>C	ENSP00000486730.1:n.*2729A>C
NM_001126131.1:c.3305A>C	NP_001119603.1:p.Gln1102Pro
NM_002693.2:c.3305A>C	NP_002684.1:p.Gln1102Pro
NM_001126131.2:c.3305A>C	NP_001119603.1:p.Gln1102Pro
NM_002693.3:c.3305A>C MANE Select	NP_002684.1:p.Gln1102Pro