Canonical Allele Identifier: CA393754256

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89864987G>T (hg19) ; chr15:g.89321756G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89321756G>T , CM000677.2:g.89321756G>T	GRCh38
NC_000015.9:g.89864987G>T , CM000677.1:g.89864987G>T	GRCh37
NC_000015.8:g.87665991G>T	NCBI36
NG_008218.1:g.18040C>A
NG_008218.2:g.18040C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2578C>A	ENSP00000516154.1:p.Leu860Ile
ENST00000268124.11:c.2578C>A MANE Select	ENSP00000268124.5:p.Leu860Ile
ENST00000530292.3:c.2179C>A	ENSP00000432885.2:p.Leu727Ile
ENST00000635986.2:c.2578C>A	ENSP00000490653.2:p.Leu860Ile
ENST00000636774.1:c.*1145C>A	ENSP00000489799.1:n.*1145C>A
ENST00000637238.1:c.1275C>A	ENSP00000490756.1:n.1275C>A
ENST00000637264.1:c.1650C>A
ENST00000666746.1:c.2155C>A
ENST00000670281.1:c.800+206C>A	ENSP00000499709.1:n.800+206C>A
ENST00000672071.1:n.2776C>A
ENST00000672923.2:n.2520C>A
ENST00000268124.9:c.2578C>A	ENSP00000268124.5:p.Leu860Ile
ENST00000442287.6:c.2578C>A	ENSP00000399851.2:p.Leu860Ile
ENST00000528881.2:c.196-496C>A
ENST00000530715.5:c.186-887C>A	ENSP00000431395.1:n.186-887C>A
ENST00000631044.2:c.*2002C>A	ENSP00000486730.1:n.*2002C>A
NM_001126131.1:c.2578C>A	NP_001119603.1:p.Leu860Ile
NM_002693.2:c.2578C>A	NP_002684.1:p.Leu860Ile
NM_001126131.2:c.2578C>A	NP_001119603.1:p.Leu860Ile
NM_002693.3:c.2578C>A MANE Select	NP_002684.1:p.Leu860Ile