Canonical Allele Identifier: CA316732

Gene: POLG

Linked Data

• ClinVar Variation Id: 206544
• ClinVar RCV Id: RCV000633551 ; RCV000730152 ; RCV002433851
• dbSNP Id: rs770236576
• ExAC: 15:89862576 C / T
• gnomAD v2: 15-89862576-C-T
• gnomAD v3: 15-89319345-C-T
• gnomAD v4: 15-89319345-C-T
• MyVariant Identifiers: chr15:g.89862576C>T (hg19) ; chr15:g.89319345C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89319345C>T , CM000677.2:g.89319345C>T	GRCh38
NC_000015.9:g.89862576C>T , CM000677.1:g.89862576C>T	GRCh37
NC_000015.8:g.87663580C>T	NCBI36
NG_008218.1:g.20451G>A
NG_008218.2:g.20451G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.2987G>A	ENSP00000516154.1:p.Arg996Gln
ENST00000268124.11:c.2987G>A MANE Select	ENSP00000268124.5:p.Arg996Gln
ENST00000530292.3:c.2588G>A	ENSP00000432885.2:p.Arg863Gln
ENST00000635986.2:c.*57G>A	ENSP00000490653.2:n.*57G>A
ENST00000636530.1:n.29+6G>A
ENST00000636774.1:c.*1554G>A	ENSP00000489799.1:n.*1554G>A
ENST00000636812.1:c.93G>A
ENST00000637238.1:c.1796G>A	ENSP00000490756.1:n.1796G>A
ENST00000637264.1:c.2059G>A
ENST00000666746.1:c.2564G>A
ENST00000670281.1:c.806G>A	ENSP00000499709.1:p.Arg269Gln
ENST00000672071.1:n.3185G>A
ENST00000672695.1:n.164G>A
ENST00000672923.2:n.2987G>A
ENST00000268124.9:c.2987G>A	ENSP00000268124.5:p.Arg996Gln
ENST00000442287.6:c.2987G>A	ENSP00000399851.2:p.Arg996Gln
ENST00000530292.2:c.71G>A	ENSP00000432885.1:p.Arg24Gln
ENST00000530715.5:c.295G>A	ENSP00000431395.1:n.295G>A
ENST00000631044.2:c.*2411G>A	ENSP00000486730.1:n.*2411G>A
NM_001126131.1:c.2987G>A	NP_001119603.1:p.Arg996Gln
NM_002693.2:c.2987G>A	NP_002684.1:p.Arg996Gln
NM_001126131.2:c.2987G>A	NP_001119603.1:p.Arg996Gln
NM_002693.3:c.2987G>A MANE Select	NP_002684.1:p.Arg996Gln