Canonical Allele Identifier: CA7724538

Gene: POLG

Linked Data

• ClinVar Variation Id: 619323
• ClinVar RCV Id: RCV000758301
• dbSNP Id: rs147827654
• ExAC: 15:89866676 C / T
• gnomAD v2: 15-89866676-C-T
• gnomAD v3: 15-89323445-C-T
• gnomAD v4: 15-89323445-C-T
• MyVariant Identifiers: chr15:g.89866676C>T (hg19) ; chr15:g.89323445C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323445C>T , CM000677.2:g.89323445C>T	GRCh38
NC_000015.9:g.89866676C>T , CM000677.1:g.89866676C>T	GRCh37
NC_000015.8:g.87667680C>T	NCBI36
NG_008218.1:g.16351G>A
NG_008218.2:g.16351G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.2224G>A	ENSP00000516154.1:p.Val742Met
ENST00000268124.11:c.2224G>A MANE Select	ENSP00000268124.5:p.Val742Met
ENST00000530292.3:c.1825G>A	ENSP00000432885.2:p.Val609Met
ENST00000635986.2:c.2224G>A	ENSP00000490653.2:p.Val742Met
ENST00000636774.1:c.*791G>A	ENSP00000489799.1:n.*791G>A
ENST00000637238.1:c.921G>A	ENSP00000490756.1:n.921G>A
ENST00000637264.1:c.1296G>A
ENST00000666746.1:c.1801G>A
ENST00000670281.1:c.544G>A	ENSP00000499709.1:p.Val182Met
ENST00000672071.1:n.2422G>A
ENST00000672923.2:n.2327G>A
ENST00000268124.9:c.2224G>A	ENSP00000268124.5:p.Val742Met
ENST00000442287.6:c.2224G>A	ENSP00000399851.2:p.Val742Met
ENST00000526314.2:c.539+370G>A
ENST00000526398.1:c.373G>A
ENST00000532584.5:n.426G>A
ENST00000631044.2:c.*1648G>A	ENSP00000486730.1:n.*1648G>A
NM_001126131.1:c.2224G>A	NP_001119603.1:p.Val742Met
NM_002693.2:c.2224G>A	NP_002684.1:p.Val742Met
NM_001126131.2:c.2224G>A	NP_001119603.1:p.Val742Met
NM_002693.3:c.2224G>A MANE Select	NP_002684.1:p.Val742Met