Canonical Allele Identifier: CA393760804

Gene: POLG

Linked Data

• ClinVar Variation Id: 2633356
• ClinVar RCV Id: RCV003985889
• MyVariant Identifiers: chr15:g.89870195G>C (hg19) ; chr15:g.89326964G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89326964G>C , CM000677.2:g.89326964G>C	GRCh38
NC_000015.9:g.89870195G>C , CM000677.1:g.89870195G>C	GRCh37
NC_000015.8:g.87671199G>C	NCBI36
NG_008218.1:g.12832C>G
NG_008218.2:g.12832C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1533C>G	ENSP00000516154.1:p.Ser511Arg
ENST00000268124.11:c.1533C>G MANE Select	ENSP00000268124.5:p.Ser511Arg
ENST00000530292.3:c.1134C>G	ENSP00000432885.2:p.Ser378Arg
ENST00000635986.2:c.1533C>G	ENSP00000490653.2:p.Ser511Arg
ENST00000636774.1:c.*100C>G	ENSP00000489799.1:n.*100C>G
ENST00000637238.1:c.270C>G	ENSP00000490756.1:p.Ser90Arg
ENST00000637264.1:c.605C>G
ENST00000666746.1:c.1110C>G
ENST00000672071.1:n.1731C>G
ENST00000672923.2:n.1636C>G
ENST00000268124.9:c.1533C>G	ENSP00000268124.5:p.Ser511Arg
ENST00000442287.6:c.1533C>G	ENSP00000399851.2:p.Ser511Arg
ENST00000631044.2:c.*916C>G	ENSP00000486730.1:n.*916C>G
NM_001126131.1:c.1533C>G	NP_001119603.1:p.Ser511Arg
NM_002693.2:c.1533C>G	NP_002684.1:p.Ser511Arg
NM_001126131.2:c.1533C>G	NP_001119603.1:p.Ser511Arg
NM_002693.3:c.1533C>G MANE Select	NP_002684.1:p.Ser511Arg