Canonical Allele Identifier: CA393756773

Gene: POLG

Linked Data

• ClinVar Variation Id: 1722178
• ClinVar RCV Id: RCV002295205
• MyVariant Identifiers: chr15:g.89866697C>G (hg19) ; chr15:g.89323466C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323466C>G , CM000677.2:g.89323466C>G	GRCh38
NC_000015.9:g.89866697C>G , CM000677.1:g.89866697C>G	GRCh37
NC_000015.8:g.87667701C>G	NCBI36
NG_008218.1:g.16330G>C
NG_008218.2:g.16330G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2203G>C	ENSP00000516154.1:p.Gly735Arg
ENST00000268124.11:c.2203G>C MANE Select	ENSP00000268124.5:p.Gly735Arg
ENST00000530292.3:c.1804G>C	ENSP00000432885.2:p.Gly602Arg
ENST00000635986.2:c.2203G>C	ENSP00000490653.2:p.Gly735Arg
ENST00000636774.1:c.*770G>C	ENSP00000489799.1:n.*770G>C
ENST00000637238.1:c.900G>C	ENSP00000490756.1:n.900G>C
ENST00000637264.1:c.1275G>C
ENST00000666746.1:c.1780G>C
ENST00000670281.1:c.523G>C	ENSP00000499709.1:p.Gly175Arg
ENST00000672071.1:n.2401G>C
ENST00000672923.2:n.2306G>C
ENST00000268124.9:c.2203G>C	ENSP00000268124.5:p.Gly735Arg
ENST00000442287.6:c.2203G>C	ENSP00000399851.2:p.Gly735Arg
ENST00000526314.2:c.539+349G>C
ENST00000526398.1:c.352G>C
ENST00000532584.5:n.405G>C
ENST00000631044.2:c.*1627G>C	ENSP00000486730.1:n.*1627G>C
NM_001126131.1:c.2203G>C	NP_001119603.1:p.Gly735Arg
NM_002693.2:c.2203G>C	NP_002684.1:p.Gly735Arg
NM_001126131.2:c.2203G>C	NP_001119603.1:p.Gly735Arg
NM_002693.3:c.2203G>C MANE Select	NP_002684.1:p.Gly735Arg