Canonical Allele Identifier: CA393749727

Gene: POLG

Linked Data

• ClinVar Variation Id: 2908349
• ClinVar RCV Id: RCV003627395
• gnomAD v4: 15-89318583-T-C
• MyVariant Identifiers: chr15:g.89861814T>C (hg19) ; chr15:g.89318583T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318583T>C , CM000677.2:g.89318583T>C	GRCh38
NC_000015.9:g.89861814T>C , CM000677.1:g.89861814T>C	GRCh37
NC_000015.8:g.87662818T>C	NCBI36
NG_008218.1:g.21213A>G
NG_011736.1:g.79621T>C , LRG_500:g.79621T>C
NG_008218.2:g.21213A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.3440A>G	ENSP00000516154.1:p.Tyr1147Cys
ENST00000268124.11:c.3440A>G MANE Select	ENSP00000268124.5:p.Tyr1147Cys
ENST00000530292.3:c.3041A>G	ENSP00000432885.2:p.Tyr1014Cys
ENST00000635986.2:c.*510A>G	ENSP00000490653.2:n.*510A>G
ENST00000636774.1:c.*2007A>G	ENSP00000489799.1:n.*2007A>G
ENST00000637238.1:c.2249A>G	ENSP00000490756.1:n.2249A>G
ENST00000637264.1:c.2512A>G
ENST00000666746.1:c.3017A>G
ENST00000672071.1:n.3638A>G
ENST00000672695.1:n.617A>G
ENST00000672923.2:n.3440A>G
ENST00000268124.9:c.3440A>G	ENSP00000268124.5:p.Tyr1147Cys
ENST00000442287.6:c.3440A>G	ENSP00000399851.2:p.Tyr1147Cys
ENST00000530292.2:c.524A>G	ENSP00000432885.1:p.Tyr175Cys
ENST00000631044.2:c.*2864A>G	ENSP00000486730.1:n.*2864A>G
NM_001126131.1:c.3440A>G	NP_001119603.1:p.Tyr1147Cys
NM_002693.2:c.3440A>G	NP_002684.1:p.Tyr1147Cys
NM_001126131.2:c.3440A>G	NP_001119603.1:p.Tyr1147Cys
NM_002693.3:c.3440A>G MANE Select	NP_002684.1:p.Tyr1147Cys