Canonical Allele Identifier: CA316861
Gene: POLG HGNC NCBI

Linked Data

ClinVar Variation Id: 206611
ClinVar RCV Id: RCV000734714 RCV000690021 RCV001117864
dbSNP Id: rs375935084
ExAC: 15:89864448 G / A
gnomAD v2: 15-89864448-G-A
gnomAD v3: 15-89321217-G-A
gnomAD v4: 15-89321217-G-A
MyVariant Identifiers: chr15:g.89864448G>A (hg19) chr15:g.89321217G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89321217G>A , CM000677.2:g.89321217G>A GRCh38
NC_000015.9:g.89864448G>A , CM000677.1:g.89864448G>A GRCh37
NC_000015.8:g.87665452G>A NCBI36
NG_008218.1:g.18579C>T
NG_008218.2:g.18579C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000636937.2:c.2642C>T ENSP00000516154.1:p.Pro881Leu
ENST00000268124.11:c.2642C>T MANE Select ENSP00000268124.5:p.Pro881Leu
ENST00000530292.3:c.2243C>T ENSP00000432885.2:p.Pro748Leu
ENST00000635986.2:c.2642C>T ENSP00000490653.2:p.Pro881Leu
ENST00000636774.1:c.*1209C>T ENSP00000489799.1:n.*1209C>T
ENST00000637238.1:c.1339C>T ENSP00000490756.1:n.1339C>T
ENST00000637264.1:c.1714C>T
ENST00000666746.1:c.2219C>T
ENST00000670281.1:c.800+745C>T ENSP00000499709.1:n.800+745C>T
ENST00000672071.1:n.2840C>T
ENST00000672923.2:n.2584C>T
ENST00000268124.9:c.2642C>T ENSP00000268124.5:p.Pro881Leu
ENST00000442287.6:c.2642C>T ENSP00000399851.2:p.Pro881Leu
ENST00000528881.2:c.239C>T
ENST00000530715.5:c.186-348C>T ENSP00000431395.1:n.186-348C>T
ENST00000631044.2:c.*2066C>T ENSP00000486730.1:n.*2066C>T
NM_001126131.1:c.2642C>T NP_001119603.1:p.Pro881Leu
NM_002693.2:c.2642C>T NP_002684.1:p.Pro881Leu
NM_001126131.2:c.2642C>T NP_001119603.1:p.Pro881Leu
NM_002693.3:c.2642C>T MANE Select NP_002684.1:p.Pro881Leu
Search 100 bp 5'
Search 100 bp 3'