Canonical Allele Identifier: CA393756644

Gene: POLG

Linked Data

• gnomAD v4: 15-89323415-G-C
• MyVariant Identifiers: chr15:g.89866646G>C (hg19) ; chr15:g.89323415G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323415G>C , CM000677.2:g.89323415G>C	GRCh38
NC_000015.9:g.89866646G>C , CM000677.1:g.89866646G>C	GRCh37
NC_000015.8:g.87667650G>C	NCBI36
NG_008218.1:g.16381C>G
NG_008218.2:g.16381C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2254C>G	ENSP00000516154.1:p.Leu752Val
ENST00000268124.11:c.2254C>G MANE Select	ENSP00000268124.5:p.Leu752Val
ENST00000530292.3:c.1855C>G	ENSP00000432885.2:p.Leu619Val
ENST00000635986.2:c.2254C>G	ENSP00000490653.2:p.Leu752Val
ENST00000636774.1:c.*821C>G	ENSP00000489799.1:n.*821C>G
ENST00000637238.1:c.951C>G	ENSP00000490756.1:n.951C>G
ENST00000637264.1:c.1326C>G
ENST00000666746.1:c.1831C>G
ENST00000670281.1:c.574C>G	ENSP00000499709.1:p.Leu192Val
ENST00000672071.1:n.2452C>G
ENST00000672923.2:n.2357C>G
ENST00000268124.9:c.2254C>G	ENSP00000268124.5:p.Leu752Val
ENST00000442287.6:c.2254C>G	ENSP00000399851.2:p.Leu752Val
ENST00000526314.2:c.539+400C>G
ENST00000526398.1:c.403C>G
ENST00000528881.2:c.23C>G
ENST00000530715.5:c.13C>G	ENSP00000431395.1:p.Leu5Val
ENST00000532584.5:n.456C>G
ENST00000631044.2:c.*1678C>G	ENSP00000486730.1:n.*1678C>G
NM_001126131.1:c.2254C>G	NP_001119603.1:p.Leu752Val
NM_002693.2:c.2254C>G	NP_002684.1:p.Leu752Val
NM_001126131.2:c.2254C>G	NP_001119603.1:p.Leu752Val
NM_002693.3:c.2254C>G MANE Select	NP_002684.1:p.Leu752Val