Canonical Allele Identifier: CA393759440

Gene: POLG

Linked Data

• ClinVar Variation Id: 1717867
• ClinVar RCV Id: RCV002297862
• MyVariant Identifiers: chr15:g.89868880C>A (hg19) ; chr15:g.89325649C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325649C>A , CM000677.2:g.89325649C>A	GRCh38
NC_000015.9:g.89868880C>A , CM000677.1:g.89868880C>A	GRCh37
NC_000015.8:g.87669884C>A	NCBI36
NG_008218.1:g.14147G>T
NG_008218.2:g.14147G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1750G>T	ENSP00000516154.1:p.Ala584Ser
ENST00000268124.11:c.1750G>T MANE Select	ENSP00000268124.5:p.Ala584Ser
ENST00000530292.3:c.1351G>T	ENSP00000432885.2:p.Ala451Ser
ENST00000635986.2:c.1750G>T	ENSP00000490653.2:p.Ala584Ser
ENST00000636774.1:c.*317G>T	ENSP00000489799.1:n.*317G>T
ENST00000637238.1:c.487G>T	ENSP00000490756.1:p.Ala163Ser
ENST00000637264.1:c.822G>T
ENST00000666746.1:c.1327G>T
ENST00000670281.1:c.70G>T	ENSP00000499709.1:p.Ala24Ser
ENST00000672071.1:n.1948G>T
ENST00000672923.2:n.1853G>T
ENST00000268124.9:c.1750G>T	ENSP00000268124.5:p.Ala584Ser
ENST00000442287.6:c.1750G>T	ENSP00000399851.2:p.Ala584Ser
ENST00000526314.2:c.132G>T
ENST00000631044.2:c.*1133G>T	ENSP00000486730.1:n.*1133G>T
NM_001126131.1:c.1750G>T	NP_001119603.1:p.Ala584Ser
NM_002693.2:c.1750G>T	NP_002684.1:p.Ala584Ser
NM_001126131.2:c.1750G>T	NP_001119603.1:p.Ala584Ser
NM_002693.3:c.1750G>T MANE Select	NP_002684.1:p.Ala584Ser