Canonical Allele Identifier: CA10602268

Gene: POLG

Linked Data

• ClinVar Variation Id: 619435
• ClinVar RCV Id: RCV000758471
• dbSNP Id: rs1336274767
• MyVariant Identifiers: chr15:g.89861948C>G (hg19) ; chr15:g.89318717C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318717C>G , CM000677.2:g.89318717C>G	GRCh38
NC_000015.9:g.89861948C>G , CM000677.1:g.89861948C>G	GRCh37
NC_000015.8:g.87662952C>G	NCBI36
NG_008218.1:g.21079G>C
NG_011736.1:g.79755C>G , LRG_500:g.79755C>G
NG_008218.2:g.21079G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3306G>C	ENSP00000516154.1:p.Gln1102His
ENST00000268124.11:c.3306G>C MANE Select	ENSP00000268124.5:p.Gln1102His
ENST00000530292.3:c.2907G>C	ENSP00000432885.2:p.Gln969His
ENST00000635986.2:c.*376G>C	ENSP00000490653.2:n.*376G>C
ENST00000636774.1:c.*1873G>C	ENSP00000489799.1:n.*1873G>C
ENST00000637238.1:c.2115G>C	ENSP00000490756.1:n.2115G>C
ENST00000637264.1:c.2378G>C
ENST00000666746.1:c.2883G>C
ENST00000672071.1:n.3504G>C
ENST00000672695.1:n.483G>C
ENST00000672923.2:n.3306G>C
ENST00000268124.9:c.3306G>C	ENSP00000268124.5:p.Gln1102His
ENST00000442287.6:c.3306G>C	ENSP00000399851.2:p.Gln1102His
ENST00000530292.2:c.390G>C	ENSP00000432885.1:p.Gln130His
ENST00000631044.2:c.*2730G>C	ENSP00000486730.1:n.*2730G>C
NM_001126131.1:c.3306G>C	NP_001119603.1:p.Gln1102His
NM_002693.2:c.3306G>C	NP_002684.1:p.Gln1102His
NM_001126131.2:c.3306G>C	NP_001119603.1:p.Gln1102His
NM_002693.3:c.3306G>C MANE Select	NP_002684.1:p.Gln1102His