Canonical Allele Identifier: CA393759466

Gene: POLG

Linked Data

• gnomAD v4: 15-89325661-G-T
• MyVariant Identifiers: chr15:g.89868892G>T (hg19) ; chr15:g.89325661G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325661G>T , CM000677.2:g.89325661G>T	GRCh38
NC_000015.9:g.89868892G>T , CM000677.1:g.89868892G>T	GRCh37
NC_000015.8:g.87669896G>T	NCBI36
NG_008218.1:g.14135C>A
NG_008218.2:g.14135C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1738C>A	ENSP00000516154.1:p.Leu580Ile
ENST00000268124.11:c.1738C>A MANE Select	ENSP00000268124.5:p.Leu580Ile
ENST00000530292.3:c.1339C>A	ENSP00000432885.2:p.Leu447Ile
ENST00000635986.2:c.1738C>A	ENSP00000490653.2:p.Leu580Ile
ENST00000636774.1:c.*305C>A	ENSP00000489799.1:n.*305C>A
ENST00000637238.1:c.475C>A	ENSP00000490756.1:p.Leu159Ile
ENST00000637264.1:c.810C>A
ENST00000666746.1:c.1315C>A
ENST00000670281.1:c.58C>A	ENSP00000499709.1:p.Leu20Ile
ENST00000672071.1:n.1936C>A
ENST00000672923.2:n.1841C>A
ENST00000268124.9:c.1738C>A	ENSP00000268124.5:p.Leu580Ile
ENST00000442287.6:c.1738C>A	ENSP00000399851.2:p.Leu580Ile
ENST00000526314.2:c.120C>A
ENST00000631044.2:c.*1121C>A	ENSP00000486730.1:n.*1121C>A
NM_001126131.1:c.1738C>A	NP_001119603.1:p.Leu580Ile
NM_002693.2:c.1738C>A	NP_002684.1:p.Leu580Ile
NM_001126131.2:c.1738C>A	NP_001119603.1:p.Leu580Ile
NM_002693.3:c.1738C>A MANE Select	NP_002684.1:p.Leu580Ile