Canonical Allele Identifier: CA492071532

Gene: POLG

Linked Data

• ClinVar Variation Id: 3003581
• ClinVar RCV Id: RCV003863156
• dbSNP Id: rs2055344213
• gnomAD v3: 15-89318657-C-T
• gnomAD v4: 15-89318657-C-T
• MyVariant Identifiers: chr15:g.89861888C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318657C>T , CM000677.2:g.89318657C>T	GRCh38
NC_000015.9:g.89861888C>T , CM000677.1:g.89861888C>T	GRCh37
NC_000015.8:g.87662892C>T	NCBI36
NG_008218.1:g.21139G>A
NG_011736.1:g.79695C>T , LRG_500:g.79695C>T
NG_008218.2:g.21139G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3366G>A	ENSP00000516154.1:p.Glu1122=
ENST00000268124.11:c.3366G>A MANE Select	ENSP00000268124.5:p.Glu1122=
ENST00000530292.3:c.2967G>A	ENSP00000432885.2:p.Glu989=
ENST00000635986.2:c.*436G>A	ENSP00000490653.2:n.*436G>A
ENST00000636774.1:c.*1933G>A	ENSP00000489799.1:n.*1933G>A
ENST00000637238.1:c.2175G>A	ENSP00000490756.1:n.2175G>A
ENST00000637264.1:c.2438G>A
ENST00000666746.1:c.2943G>A
ENST00000672071.1:n.3564G>A
ENST00000672695.1:n.543G>A
ENST00000672923.2:n.3366G>A
ENST00000268124.9:c.3366G>A	ENSP00000268124.5:p.Glu1122=
ENST00000442287.6:c.3366G>A	ENSP00000399851.2:p.Glu1122=
ENST00000530292.2:c.450G>A	ENSP00000432885.1:p.Glu150=
ENST00000631044.2:c.*2790G>A	ENSP00000486730.1:n.*2790G>A
NM_001126131.1:c.3366G>A	NP_001119603.1:p.Glu1122=
NM_002693.2:c.3366G>A	NP_002684.1:p.Glu1122=
NM_001126131.2:c.3366G>A	NP_001119603.1:p.Glu1122=
NM_002693.3:c.3366G>A MANE Select	NP_002684.1:p.Glu1122=