Canonical Allele Identifier: CA10602207

Gene: POLG

Linked Data

• ClinVar Variation Id: 317332
• ClinVar RCV Id: RCV000344383 ; RCV000602628 ; RCV000758359
• dbSNP Id: rs886051524
• gnomAD v2: 15-89868743-G-A
• gnomAD v3: 15-89325512-G-A
• gnomAD v4: 15-89325512-G-A
• MyVariant Identifiers: chr15:g.89868743G>A (hg19) ; chr15:g.89325512G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325512G>A , CM000677.2:g.89325512G>A	GRCh38
NC_000015.9:g.89868743G>A , CM000677.1:g.89868743G>A	GRCh37
NC_000015.8:g.87669747G>A	NCBI36
NG_008218.1:g.14284C>T
NG_008218.2:g.14284C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1887C>T	ENSP00000516154.1:p.Asp629=
ENST00000268124.11:c.1887C>T MANE Select	ENSP00000268124.5:p.Asp629=
ENST00000530292.3:c.1488C>T	ENSP00000432885.2:p.Asp496=
ENST00000635986.2:c.1887C>T	ENSP00000490653.2:p.Asp629=
ENST00000636774.1:c.*454C>T	ENSP00000489799.1:n.*454C>T
ENST00000637238.1:c.624C>T	ENSP00000490756.1:p.Asp208=
ENST00000637264.1:c.959C>T
ENST00000666746.1:c.1464C>T
ENST00000670281.1:c.207C>T	ENSP00000499709.1:p.Asp69=
ENST00000672071.1:n.2085C>T
ENST00000672923.2:n.1990C>T
ENST00000268124.9:c.1887C>T	ENSP00000268124.5:p.Asp629=
ENST00000442287.6:c.1887C>T	ENSP00000399851.2:p.Asp629=
ENST00000526314.2:c.269C>T
ENST00000526398.1:c.76C>T
ENST00000532584.5:n.89C>T
ENST00000631044.2:c.*1270C>T	ENSP00000486730.1:n.*1270C>T
NM_001126131.1:c.1887C>T	NP_001119603.1:p.Asp629=
NM_002693.2:c.1887C>T	NP_002684.1:p.Asp629=
NM_001126131.2:c.1887C>T	NP_001119603.1:p.Asp629=
NM_002693.3:c.1887C>T MANE Select	NP_002684.1:p.Asp629=