Canonical Allele Identifier: CA256895

Gene: POLG

Linked Data

• ClinVar Variation Id: 13508
• ClinVar RCV Id: RCV000014462 ; RCV003460472
• dbSNP Id: rs121918051
• MyVariant Identifiers: chr15:g.89864109C>A (hg19) ; chr15:g.89320878C>A (hg38)
• PubMed: PMID:12210792

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89320878C>A , CM000677.2:g.89320878C>A	GRCh38
NC_000015.9:g.89864109C>A , CM000677.1:g.89864109C>A	GRCh37
NC_000015.8:g.87665113C>A	NCBI36
NG_008218.1:g.18918G>T
NG_008218.2:g.18918G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2869G>T	ENSP00000516154.1:p.Ala957Ser
ENST00000268124.11:c.2869G>T MANE Select	ENSP00000268124.5:p.Ala957Ser
ENST00000530292.3:c.2470G>T	ENSP00000432885.2:p.Ala824Ser
ENST00000635986.2:c.2869G>T	ENSP00000490653.2:p.Ala957Ser
ENST00000636774.1:c.*1436G>T	ENSP00000489799.1:n.*1436G>T
ENST00000637238.1:c.1678G>T	ENSP00000490756.1:n.1678G>T
ENST00000637264.1:c.1941G>T
ENST00000666746.1:c.2446G>T
ENST00000670281.1:c.800+1084G>T	ENSP00000499709.1:n.800+1084G>T
ENST00000672071.1:n.3067G>T
ENST00000672695.1:n.46G>T
ENST00000672923.2:n.2811G>T
ENST00000268124.9:c.2869G>T	ENSP00000268124.5:p.Ala957Ser
ENST00000442287.6:c.2869G>T	ENSP00000399851.2:p.Ala957Ser
ENST00000528881.2:c.466G>T
ENST00000530715.5:c.186-9G>T	ENSP00000431395.1:n.186-9G>T
ENST00000631044.2:c.*2293G>T	ENSP00000486730.1:n.*2293G>T
NM_001126131.1:c.2869G>T	NP_001119603.1:p.Ala957Ser
NM_002693.2:c.2869G>T	NP_002684.1:p.Ala957Ser
NM_001126131.2:c.2869G>T	NP_001119603.1:p.Ala957Ser
NM_002693.3:c.2869G>T MANE Select	NP_002684.1:p.Ala957Ser