Canonical Allele Identifier: CA393754241

Gene: POLG

Linked Data

• gnomAD v4: 15-89321755-A-C
• MyVariant Identifiers: chr15:g.89864986A>C (hg19) ; chr15:g.89321755A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89321755A>C , CM000677.2:g.89321755A>C	GRCh38
NC_000015.9:g.89864986A>C , CM000677.1:g.89864986A>C	GRCh37
NC_000015.8:g.87665990A>C	NCBI36
NG_008218.1:g.18041T>G
NG_008218.2:g.18041T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2579T>G	ENSP00000516154.1:p.Leu860Arg
ENST00000268124.11:c.2579T>G MANE Select	ENSP00000268124.5:p.Leu860Arg
ENST00000530292.3:c.2180T>G	ENSP00000432885.2:p.Leu727Arg
ENST00000635986.2:c.2579T>G	ENSP00000490653.2:p.Leu860Arg
ENST00000636774.1:c.*1146T>G	ENSP00000489799.1:n.*1146T>G
ENST00000637238.1:c.1276T>G	ENSP00000490756.1:n.1276T>G
ENST00000637264.1:c.1651T>G
ENST00000666746.1:c.2156T>G
ENST00000670281.1:c.800+207T>G	ENSP00000499709.1:n.800+207T>G
ENST00000672071.1:n.2777T>G
ENST00000672923.2:n.2521T>G
ENST00000268124.9:c.2579T>G	ENSP00000268124.5:p.Leu860Arg
ENST00000442287.6:c.2579T>G	ENSP00000399851.2:p.Leu860Arg
ENST00000528881.2:c.196-495T>G
ENST00000530715.5:c.186-886T>G	ENSP00000431395.1:n.186-886T>G
ENST00000631044.2:c.*2003T>G	ENSP00000486730.1:n.*2003T>G
NM_001126131.1:c.2579T>G	NP_001119603.1:p.Leu860Arg
NM_002693.2:c.2579T>G	NP_002684.1:p.Leu860Arg
NM_001126131.2:c.2579T>G	NP_001119603.1:p.Leu860Arg
NM_002693.3:c.2579T>G MANE Select	NP_002684.1:p.Leu860Arg