Canonical Allele Identifier: CA393748044

Gene: POLG

Linked Data

• ClinVar Variation Id: 2414642
• ClinVar RCV Id: RCV003108477
• MyVariant Identifiers: chr15:g.89860744C>A (hg19) ; chr15:g.89317513C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317513C>A , CM000677.2:g.89317513C>A	GRCh38
NC_000015.9:g.89860744C>A , CM000677.1:g.89860744C>A	GRCh37
NC_000015.8:g.87661748C>A	NCBI36
NG_008218.1:g.22283G>T
NG_011736.1:g.78551C>A , LRG_500:g.78551C>A
NG_008218.2:g.22283G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3506G>T	ENSP00000516154.1:p.Gly1169Val
ENST00000268124.11:c.3506G>T MANE Select	ENSP00000268124.5:p.Gly1169Val
ENST00000530292.3:c.3206G>T	ENSP00000432885.2:n.3206G>T
ENST00000635986.2:c.*576G>T	ENSP00000490653.2:n.*576G>T
ENST00000636774.1:c.*2110G>T	ENSP00000489799.1:n.*2110G>T
ENST00000637042.1:n.72-42G>T
ENST00000637238.1:c.2414G>T	ENSP00000490756.1:n.2414G>T
ENST00000637264.1:c.2555-37G>T
ENST00000666746.1:c.3083G>T
ENST00000672071.1:n.4708G>T
ENST00000672695.1:n.1285G>T
ENST00000672923.2:n.3506G>T
ENST00000268124.9:c.3506G>T	ENSP00000268124.5:p.Gly1169Val
ENST00000442287.6:c.3506G>T	ENSP00000399851.2:p.Gly1169Val
ENST00000526671.1:n.316G>T
ENST00000530292.2:c.689G>T	ENSP00000432885.1:n.689G>T
ENST00000631044.2:c.*2930G>T	ENSP00000486730.1:n.*2930G>T
NM_001126131.1:c.3506G>T	NP_001119603.1:p.Gly1169Val
NM_002693.2:c.3506G>T	NP_002684.1:p.Gly1169Val
NM_001126131.2:c.3506G>T	NP_001119603.1:p.Gly1169Val
NM_002693.3:c.3506G>T MANE Select	NP_002684.1:p.Gly1169Val