Canonical Allele Identifier: CA292825

Gene: POLG

Linked Data

• ClinVar Variation Id: 138743
• ClinVar RCV Id: RCV000127516 ; RCV000263177 ; RCV000457002 ; RCV000710184 ; RCV001847749 ; RCV002415616
• dbSNP Id: rs373550219
• ExAC: 15:89867380 C / T
• gnomAD v2: 15-89867380-C-T
• gnomAD v3: 15-89324149-C-T
• gnomAD v4: 15-89324149-C-T
• MyVariant Identifiers: chr15:g.89867380C>T (hg19) ; chr15:g.89324149C>T (hg38)
• PubMed: PMID:25660390

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89324149C>T , CM000677.2:g.89324149C>T	GRCh38
NC_000015.9:g.89867380C>T , CM000677.1:g.89867380C>T	GRCh37
NC_000015.8:g.87668384C>T	NCBI36
NG_008218.1:g.15647G>A
NG_008218.2:g.15647G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2028G>A	ENSP00000516154.1:p.Ala676=
ENST00000268124.11:c.2028G>A MANE Select	ENSP00000268124.5:p.Ala676=
ENST00000530292.3:c.1629G>A	ENSP00000432885.2:p.Ala543=
ENST00000635986.2:c.2028G>A	ENSP00000490653.2:p.Ala676=
ENST00000636774.1:c.*595G>A	ENSP00000489799.1:n.*595G>A
ENST00000637238.1:c.725G>A	ENSP00000490756.1:n.725G>A
ENST00000637264.1:c.1100G>A
ENST00000666746.1:c.1605G>A
ENST00000670281.1:c.348G>A	ENSP00000499709.1:p.Ala116=
ENST00000672071.1:n.2226G>A
ENST00000672923.2:n.2131G>A
ENST00000268124.9:c.2028G>A	ENSP00000268124.5:p.Ala676=
ENST00000442287.6:c.2028G>A	ENSP00000399851.2:p.Ala676=
ENST00000526314.2:c.410G>A
ENST00000526398.1:c.177G>A
ENST00000526573.1:n.114G>A
ENST00000532584.5:n.230G>A
ENST00000533857.1:n.143G>A
ENST00000631044.2:c.*1411G>A	ENSP00000486730.1:n.*1411G>A
NM_001126131.1:c.2028G>A	NP_001119603.1:p.Ala676=
NM_002693.2:c.2028G>A	NP_002684.1:p.Ala676=
NM_001126131.2:c.2028G>A	NP_001119603.1:p.Ala676=
NM_002693.3:c.2028G>A MANE Select	NP_002684.1:p.Ala676=