Canonical Allele Identifier: CA316713

Gene: POLG

Linked Data

• ClinVar Variation Id: 2047887
• ClinVar RCV Id: RCV002926968
• dbSNP Id: rs760431841
• MyVariant Identifiers: chr15:g.89864175T>A (hg19) ; chr15:g.89320944T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89320944T>A , CM000677.2:g.89320944T>A	GRCh38
NC_000015.9:g.89864175T>A , CM000677.1:g.89864175T>A	GRCh37
NC_000015.8:g.87665179T>A	NCBI36
NG_008218.1:g.18852A>T
NG_008218.2:g.18852A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2803A>T	ENSP00000516154.1:p.Thr935Ser
ENST00000268124.11:c.2803A>T MANE Select	ENSP00000268124.5:p.Thr935Ser
ENST00000530292.3:c.2404A>T	ENSP00000432885.2:p.Thr802Ser
ENST00000635986.2:c.2803A>T	ENSP00000490653.2:p.Thr935Ser
ENST00000636774.1:c.*1370A>T	ENSP00000489799.1:n.*1370A>T
ENST00000637238.1:c.1612A>T	ENSP00000490756.1:n.1612A>T
ENST00000637264.1:c.1875A>T
ENST00000666746.1:c.2380A>T
ENST00000670281.1:c.800+1018A>T	ENSP00000499709.1:n.800+1018A>T
ENST00000672071.1:n.3001A>T
ENST00000672923.2:n.2745A>T
ENST00000268124.9:c.2803A>T	ENSP00000268124.5:p.Thr935Ser
ENST00000442287.6:c.2803A>T	ENSP00000399851.2:p.Thr935Ser
ENST00000528881.2:c.400A>T
ENST00000530715.5:c.186-75A>T	ENSP00000431395.1:n.186-75A>T
ENST00000631044.2:c.*2227A>T	ENSP00000486730.1:n.*2227A>T
NM_001126131.1:c.2803A>T	NP_001119603.1:p.Thr935Ser
NM_002693.2:c.2803A>T	NP_002684.1:p.Thr935Ser
NM_001126131.2:c.2803A>T	NP_001119603.1:p.Thr935Ser
NM_002693.3:c.2803A>T MANE Select	NP_002684.1:p.Thr935Ser