Canonical Allele Identifier: CA7724332
Gene: POLG HGNC NCBI

Linked Data

ClinVar Variation Id: 378415
dbSNP Id: rs752500492

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89320867G>A , CM000677.2:g.89320867G>A GRCh38
NC_000015.9:g.89864098G>A , CM000677.1:g.89864098G>A GRCh37
NC_000015.8:g.87665102G>A NCBI36
NG_008218.1:g.18929C>T
NG_008218.2:g.18929C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.2880C>T ENSP00000516154.1:p.Pro960=
ENST00000268124.11:c.2880C>T MANE Select ENSP00000268124.5:p.Pro960=
ENST00000530292.3:c.2481C>T ENSP00000432885.2:p.Pro827=
ENST00000635986.2:c.2880C>T ENSP00000490653.2:p.Pro960=
ENST00000636774.1:c.*1447C>T ENSP00000489799.1:n.*1447C>T
ENST00000637238.1:c.1689C>T ENSP00000490756.1:n.1689C>T
ENST00000637264.1:c.1952C>T
ENST00000666746.1:c.2457C>T
ENST00000670281.1:c.800+1095C>T ENSP00000499709.1:n.800+1095C>T
ENST00000672071.1:n.3078C>T
ENST00000672695.1:n.57C>T
ENST00000672923.2:n.2822C>T
ENST00000268124.9:c.2880C>T ENSP00000268124.5:p.Pro960=
ENST00000442287.6:c.2880C>T ENSP00000399851.2:p.Pro960=
ENST00000528881.2:c.477C>T
ENST00000530715.5:c.188C>T ENSP00000431395.1:p.Pro63Leu
ENST00000631044.2:c.*2304C>T ENSP00000486730.1:n.*2304C>T
NM_001126131.1:c.2880C>T NP_001119603.1:p.Pro960=
NM_002693.2:c.2880C>T NP_002684.1:p.Pro960=
NM_001126131.2:c.2880C>T NP_001119603.1:p.Pro960=
NM_002693.3:c.2880C>T MANE Select NP_002684.1:p.Pro960=