Canonical Allele Identifier: CA274540912

Gene: POLG

Linked Data

• ClinVar Variation Id: 586360
• ClinVar RCV Id: RCV000712803 ; RCV000816523
• dbSNP Id: rs879135314
• gnomAD v2: 15-89861809-C-T
• gnomAD v3: 15-89318578-C-T
• gnomAD v4: 15-89318578-C-T
• MyVariant Identifiers: chr15:g.89861809C>T (hg19) ; chr15:g.89318578C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318578C>T , CM000677.2:g.89318578C>T	GRCh38
NC_000015.9:g.89861809C>T , CM000677.1:g.89861809C>T	GRCh37
NC_000015.8:g.87662813C>T	NCBI36
NG_008218.1:g.21218G>A
NG_011736.1:g.79616C>T , LRG_500:g.79616C>T
NG_008218.2:g.21218G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.3445G>A	ENSP00000516154.1:p.Ala1149Thr
ENST00000268124.11:c.3445G>A MANE Select	ENSP00000268124.5:p.Ala1149Thr
ENST00000530292.3:c.3046G>A	ENSP00000432885.2:p.Ala1016Thr
ENST00000635986.2:c.*515G>A	ENSP00000490653.2:n.*515G>A
ENST00000636774.1:c.*2012G>A	ENSP00000489799.1:n.*2012G>A
ENST00000637238.1:c.2254G>A	ENSP00000490756.1:n.2254G>A
ENST00000637264.1:c.2517G>A
ENST00000666746.1:c.3022G>A
ENST00000672071.1:n.3643G>A
ENST00000672695.1:n.622G>A
ENST00000672923.2:n.3445G>A
ENST00000268124.9:c.3445G>A	ENSP00000268124.5:p.Ala1149Thr
ENST00000442287.6:c.3445G>A	ENSP00000399851.2:p.Ala1149Thr
ENST00000530292.2:c.529G>A	ENSP00000432885.1:p.Ala177Thr
ENST00000631044.2:c.*2869G>A	ENSP00000486730.1:n.*2869G>A
NM_001126131.1:c.3445G>A	NP_001119603.1:p.Ala1149Thr
NM_002693.2:c.3445G>A	NP_002684.1:p.Ala1149Thr
NM_001126131.2:c.3445G>A	NP_001119603.1:p.Ala1149Thr
NM_002693.3:c.3445G>A MANE Select	NP_002684.1:p.Ala1149Thr