Canonical Allele Identifier: CA393749865

Gene: POLG

Linked Data

• dbSNP Id: rs1422562559
• gnomAD v3: 15-89318649-A-T
• gnomAD v4: 15-89318649-A-T
• MyVariant Identifiers: chr15:g.89861880A>T (hg19) ; chr15:g.89318649A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318649A>T , CM000677.2:g.89318649A>T	GRCh38
NC_000015.9:g.89861880A>T , CM000677.1:g.89861880A>T	GRCh37
NC_000015.8:g.87662884A>T	NCBI36
NG_008218.1:g.21147T>A
NG_011736.1:g.79687A>T , LRG_500:g.79687A>T
NG_008218.2:g.21147T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3374T>A	ENSP00000516154.1:p.Ile1125Lys
ENST00000268124.11:c.3374T>A MANE Select	ENSP00000268124.5:p.Ile1125Lys
ENST00000530292.3:c.2975T>A	ENSP00000432885.2:p.Ile992Lys
ENST00000635986.2:c.*444T>A	ENSP00000490653.2:n.*444T>A
ENST00000636774.1:c.*1941T>A	ENSP00000489799.1:n.*1941T>A
ENST00000637238.1:c.2183T>A	ENSP00000490756.1:n.2183T>A
ENST00000637264.1:c.2446T>A
ENST00000666746.1:c.2951T>A
ENST00000672071.1:n.3572T>A
ENST00000672695.1:n.551T>A
ENST00000672923.2:n.3374T>A
ENST00000268124.9:c.3374T>A	ENSP00000268124.5:p.Ile1125Lys
ENST00000442287.6:c.3374T>A	ENSP00000399851.2:p.Ile1125Lys
ENST00000530292.2:c.458T>A	ENSP00000432885.1:p.Ile153Lys
ENST00000631044.2:c.*2798T>A	ENSP00000486730.1:n.*2798T>A
NM_001126131.1:c.3374T>A	NP_001119603.1:p.Ile1125Lys
NM_002693.2:c.3374T>A	NP_002684.1:p.Ile1125Lys
NM_001126131.2:c.3374T>A	NP_001119603.1:p.Ile1125Lys
NM_002693.3:c.3374T>A MANE Select	NP_002684.1:p.Ile1125Lys