Canonical Allele Identifier: CA393758984

Gene: POLG

Linked Data

• ClinVar Variation Id: 1967861
• ClinVar RCV Id: RCV002727072
• dbSNP Id: rs1156534099
• MyVariant Identifiers: chr15:g.89868700C>G (hg19) ; chr15:g.89325469C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325469C>G , CM000677.2:g.89325469C>G	GRCh38
NC_000015.9:g.89868700C>G , CM000677.1:g.89868700C>G	GRCh37
NC_000015.8:g.87669704C>G	NCBI36
NG_008218.1:g.14327G>C
NG_008218.2:g.14327G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1930G>C	ENSP00000516154.1:p.Gly644Arg
ENST00000268124.11:c.1930G>C MANE Select	ENSP00000268124.5:p.Gly644Arg
ENST00000530292.3:c.1531G>C	ENSP00000432885.2:p.Gly511Arg
ENST00000635986.2:c.1930G>C	ENSP00000490653.2:p.Gly644Arg
ENST00000636774.1:c.*497G>C	ENSP00000489799.1:n.*497G>C
ENST00000637238.1:c.646+21G>C	ENSP00000490756.1:n.646+21G>C
ENST00000637264.1:c.1002G>C
ENST00000666746.1:c.1507G>C
ENST00000670281.1:c.250G>C	ENSP00000499709.1:p.Gly84Arg
ENST00000672071.1:n.2128G>C
ENST00000672923.2:n.2033G>C
ENST00000268124.9:c.1930G>C	ENSP00000268124.5:p.Gly644Arg
ENST00000442287.6:c.1930G>C	ENSP00000399851.2:p.Gly644Arg
ENST00000526314.2:c.312G>C
ENST00000526398.1:c.119G>C
ENST00000526573.1:n.16G>C
ENST00000532584.5:n.132G>C
ENST00000631044.2:c.*1313G>C	ENSP00000486730.1:n.*1313G>C
NM_001126131.1:c.1930G>C	NP_001119603.1:p.Gly644Arg
NM_002693.2:c.1930G>C	NP_002684.1:p.Gly644Arg
NM_001126131.2:c.1930G>C	NP_001119603.1:p.Gly644Arg
NM_002693.3:c.1930G>C MANE Select	NP_002684.1:p.Gly644Arg