Canonical Allele Identifier: CA10602220

Gene: POLG

Linked Data

• ClinVar Variation Id: 619324
• ClinVar RCV Id: RCV000758302
• dbSNP Id: rs1567188178
• MyVariant Identifiers: chr15:g.89866638G>C (hg19) ; chr15:g.89323407G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323407G>C , CM000677.2:g.89323407G>C	GRCh38
NC_000015.9:g.89866638G>C , CM000677.1:g.89866638G>C	GRCh37
NC_000015.8:g.87667642G>C	NCBI36
NG_008218.1:g.16389C>G
NG_008218.2:g.16389C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2262C>G	ENSP00000516154.1:p.His754Gln
ENST00000268124.11:c.2262C>G MANE Select	ENSP00000268124.5:p.His754Gln
ENST00000530292.3:c.1863C>G	ENSP00000432885.2:p.His621Gln
ENST00000635986.2:c.2262C>G	ENSP00000490653.2:p.His754Gln
ENST00000636774.1:c.*829C>G	ENSP00000489799.1:n.*829C>G
ENST00000637238.1:c.959C>G	ENSP00000490756.1:n.959C>G
ENST00000637264.1:c.1334C>G
ENST00000666746.1:c.1839C>G
ENST00000670281.1:c.582C>G	ENSP00000499709.1:p.His194Gln
ENST00000672071.1:n.2460C>G
ENST00000672923.2:n.2365C>G
ENST00000268124.9:c.2262C>G	ENSP00000268124.5:p.His754Gln
ENST00000442287.6:c.2262C>G	ENSP00000399851.2:p.His754Gln
ENST00000526314.2:c.539+408C>G
ENST00000526398.1:c.411C>G
ENST00000528881.2:c.31C>G
ENST00000530715.5:c.21C>G	ENSP00000431395.1:p.His7Gln
ENST00000532584.5:n.464C>G
ENST00000631044.2:c.*1686C>G	ENSP00000486730.1:n.*1686C>G
NM_001126131.1:c.2262C>G	NP_001119603.1:p.His754Gln
NM_002693.2:c.2262C>G	NP_002684.1:p.His754Gln
NM_001126131.2:c.2262C>G	NP_001119603.1:p.His754Gln
NM_002693.3:c.2262C>G MANE Select	NP_002684.1:p.His754Gln