Canonical Allele Identifier: CA7724560

Gene: POLG

Linked Data

• ClinVar Variation Id: 1290884
• ClinVar RCV Id: RCV001716719 ; RCV002073336
• dbSNP Id: rs763930501
• ExAC: 15:89866755 C / T
• gnomAD v2: 15-89866755-C-T
• gnomAD v3: 15-89323524-C-T
• gnomAD v4: 15-89323524-C-T
• MyVariant Identifiers: chr15:g.89866755C>T (hg19) ; chr15:g.89323524C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323524C>T , CM000677.2:g.89323524C>T	GRCh38
NC_000015.9:g.89866755C>T , CM000677.1:g.89866755C>T	GRCh37
NC_000015.8:g.87667759C>T	NCBI36
NG_008218.1:g.16272G>A
NG_008218.2:g.16272G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2158-13G>A	ENSP00000516154.1:n.2158-13G>A
ENST00000268124.11:c.2158-13G>A MANE Select	ENSP00000268124.5:n.2158-13G>A
ENST00000530292.3:c.1759-13G>A	ENSP00000432885.2:n.1759-13G>A
ENST00000635986.2:c.2158-13G>A	ENSP00000490653.2:n.2158-13G>A
ENST00000636774.1:c.*725-13G>A	ENSP00000489799.1:n.*725-13G>A
ENST00000637238.1:c.855-13G>A	ENSP00000490756.1:n.855-13G>A
ENST00000637264.1:c.1230-13G>A
ENST00000666746.1:c.1735-13G>A
ENST00000670281.1:c.478-13G>A	ENSP00000499709.1:n.478-13G>A
ENST00000672071.1:n.2356-13G>A
ENST00000672923.2:n.2261-13G>A
ENST00000268124.9:c.2158-13G>A	ENSP00000268124.5:n.2158-13G>A
ENST00000442287.6:c.2158-13G>A	ENSP00000399851.2:n.2158-13G>A
ENST00000526314.2:c.539+291G>A
ENST00000526398.1:c.307-13G>A
ENST00000526573.1:n.534G>A
ENST00000532584.5:n.360-13G>A
ENST00000533857.1:n.563G>A
ENST00000631044.2:c.*1569G>A	ENSP00000486730.1:n.*1569G>A
NM_001126131.1:c.2158-13G>A	NP_001119603.1:n.2158-13G>A
NM_002693.2:c.2158-13G>A	NP_002684.1:n.2158-13G>A
NM_001126131.2:c.2158-13G>A	NP_001119603.1:n.2158-13G>A
NM_002693.3:c.2158-13G>A MANE Select	NP_002684.1:n.2158-13G>A