Canonical Allele Identifier: CA492070803

Gene: POLG

Linked Data

• ClinVar Variation Id: 1673199
• ClinVar RCV Id: RCV002213663
• dbSNP Id: rs563064296
• MyVariant Identifiers: chr15:g.89860743A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317512A>T , CM000677.2:g.89317512A>T	GRCh38
NC_000015.9:g.89860743A>T , CM000677.1:g.89860743A>T	GRCh37
NC_000015.8:g.87661747A>T	NCBI36
NG_008218.1:g.22284T>A
NG_011736.1:g.78550A>T , LRG_500:g.78550A>T
NG_008218.2:g.22284T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3507T>A	ENSP00000516154.1:p.Gly1169=
ENST00000268124.11:c.3507T>A MANE Select	ENSP00000268124.5:p.Gly1169=
ENST00000530292.3:c.3207T>A	ENSP00000432885.2:n.3207T>A
ENST00000635986.2:c.*577T>A	ENSP00000490653.2:n.*577T>A
ENST00000636774.1:c.*2111T>A	ENSP00000489799.1:n.*2111T>A
ENST00000637042.1:n.72-41T>A
ENST00000637238.1:c.2415T>A	ENSP00000490756.1:n.2415T>A
ENST00000637264.1:c.2555-36T>A
ENST00000666746.1:c.3084T>A
ENST00000672071.1:n.4709T>A
ENST00000672695.1:n.1286T>A
ENST00000672923.2:n.3507T>A
ENST00000268124.9:c.3507T>A	ENSP00000268124.5:p.Gly1169=
ENST00000442287.6:c.3507T>A	ENSP00000399851.2:p.Gly1169=
ENST00000526671.1:n.317T>A
ENST00000530292.2:c.690T>A	ENSP00000432885.1:n.690T>A
ENST00000631044.2:c.*2931T>A	ENSP00000486730.1:n.*2931T>A
NM_001126131.1:c.3507T>A	NP_001119603.1:p.Gly1169=
NM_002693.2:c.3507T>A	NP_002684.1:p.Gly1169=
NM_001126131.2:c.3507T>A	NP_001119603.1:p.Gly1169=
NM_002693.3:c.3507T>A MANE Select	NP_002684.1:p.Gly1169=