Canonical Allele Identifier: CA10602206
Gene: POLG HGNC NCBI

Linked Data

ClinVar Variation Id: 419975
ClinVar RCV Id: RCV000478890 RCV000758441
dbSNP Id: rs1064794214
MyVariant Identifiers: chr15:g.89868756G>A (hg19) chr15:g.89325525G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89325525G>A , CM000677.2:g.89325525G>A GRCh38
NC_000015.9:g.89868756G>A , CM000677.1:g.89868756G>A GRCh37
NC_000015.8:g.87669760G>A NCBI36
NG_008218.1:g.14271C>T
NG_008218.2:g.14271C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000636937.2:c.1874C>T ENSP00000516154.1:p.Pro625Leu
ENST00000268124.11:c.1874C>T MANE Select ENSP00000268124.5:p.Pro625Leu
ENST00000530292.3:c.1475C>T ENSP00000432885.2:p.Pro492Leu
ENST00000635986.2:c.1874C>T ENSP00000490653.2:p.Pro625Leu
ENST00000636774.1:c.*441C>T ENSP00000489799.1:n.*441C>T
ENST00000637238.1:c.611C>T ENSP00000490756.1:p.Pro204Leu
ENST00000637264.1:c.946C>T
ENST00000666746.1:c.1451C>T
ENST00000670281.1:c.194C>T ENSP00000499709.1:p.Pro65Leu
ENST00000672071.1:n.2072C>T
ENST00000672923.2:n.1977C>T
ENST00000268124.9:c.1874C>T ENSP00000268124.5:p.Pro625Leu
ENST00000442287.6:c.1874C>T ENSP00000399851.2:p.Pro625Leu
ENST00000526314.2:c.256C>T
ENST00000526398.1:c.63C>T
ENST00000532584.5:n.76C>T
ENST00000631044.2:c.*1257C>T ENSP00000486730.1:n.*1257C>T
NM_001126131.1:c.1874C>T NP_001119603.1:p.Pro625Leu
NM_002693.2:c.1874C>T NP_002684.1:p.Pro625Leu
NM_001126131.2:c.1874C>T NP_001119603.1:p.Pro625Leu
NM_002693.3:c.1874C>T MANE Select NP_002684.1:p.Pro625Leu
Search 100 bp 5'
Search 100 bp 3'