Canonical Allele Identifier: CA393750564

Gene: POLG

Linked Data

• ClinVar Variation Id: 2198847
• ClinVar RCV Id: RCV002633925
• dbSNP Id: rs1432651664
• gnomAD v3: 15-89318978-C-G
• gnomAD v4: 15-89318978-C-G
• MyVariant Identifiers: chr15:g.89862209C>G (hg19) ; chr15:g.89318978C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318978C>G , CM000677.2:g.89318978C>G	GRCh38
NC_000015.9:g.89862209C>G , CM000677.1:g.89862209C>G	GRCh37
NC_000015.8:g.87663213C>G	NCBI36
NG_008218.1:g.20818G>C
NG_011736.1:g.80016C>G , LRG_500:g.80016C>G
NG_008218.2:g.20818G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3226G>C	ENSP00000516154.1:p.Gly1076Arg
ENST00000268124.11:c.3226G>C MANE Select	ENSP00000268124.5:p.Gly1076Arg
ENST00000530292.3:c.2827G>C	ENSP00000432885.2:p.Gly943Arg
ENST00000635986.2:c.*296G>C	ENSP00000490653.2:n.*296G>C
ENST00000636774.1:c.*1793G>C	ENSP00000489799.1:n.*1793G>C
ENST00000637238.1:c.2035G>C	ENSP00000490756.1:n.2035G>C
ENST00000637264.1:c.2298G>C
ENST00000666746.1:c.2803G>C
ENST00000672071.1:n.3424G>C
ENST00000672695.1:n.403G>C
ENST00000672923.2:n.3226G>C
ENST00000268124.9:c.3226G>C	ENSP00000268124.5:p.Gly1076Arg
ENST00000442287.6:c.3226G>C	ENSP00000399851.2:p.Gly1076Arg
ENST00000530292.2:c.310G>C	ENSP00000432885.1:p.Gly104Arg
ENST00000631044.2:c.*2650G>C	ENSP00000486730.1:n.*2650G>C
NM_001126131.1:c.3226G>C	NP_001119603.1:p.Gly1076Arg
NM_002693.2:c.3226G>C	NP_002684.1:p.Gly1076Arg
NM_001126131.2:c.3226G>C	NP_001119603.1:p.Gly1076Arg
NM_002693.3:c.3226G>C MANE Select	NP_002684.1:p.Gly1076Arg