Canonical Allele Identifier: CA393749960

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89861923G>T (hg19) ; chr15:g.89318692G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318692G>T , CM000677.2:g.89318692G>T	GRCh38
NC_000015.9:g.89861923G>T , CM000677.1:g.89861923G>T	GRCh37
NC_000015.8:g.87662927G>T	NCBI36
NG_008218.1:g.21104C>A
NG_011736.1:g.79730G>T , LRG_500:g.79730G>T
NG_008218.2:g.21104C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3331C>A	ENSP00000516154.1:p.Leu1111Ile
ENST00000268124.11:c.3331C>A MANE Select	ENSP00000268124.5:p.Leu1111Ile
ENST00000530292.3:c.2932C>A	ENSP00000432885.2:p.Leu978Ile
ENST00000635986.2:c.*401C>A	ENSP00000490653.2:n.*401C>A
ENST00000636774.1:c.*1898C>A	ENSP00000489799.1:n.*1898C>A
ENST00000637238.1:c.2140C>A	ENSP00000490756.1:n.2140C>A
ENST00000637264.1:c.2403C>A
ENST00000666746.1:c.2908C>A
ENST00000672071.1:n.3529C>A
ENST00000672695.1:n.508C>A
ENST00000672923.2:n.3331C>A
ENST00000268124.9:c.3331C>A	ENSP00000268124.5:p.Leu1111Ile
ENST00000442287.6:c.3331C>A	ENSP00000399851.2:p.Leu1111Ile
ENST00000530292.2:c.415C>A	ENSP00000432885.1:p.Leu139Ile
ENST00000631044.2:c.*2755C>A	ENSP00000486730.1:n.*2755C>A
NM_001126131.1:c.3331C>A	NP_001119603.1:p.Leu1111Ile
NM_002693.2:c.3331C>A	NP_002684.1:p.Leu1111Ile
NM_001126131.2:c.3331C>A	NP_001119603.1:p.Leu1111Ile
NM_002693.3:c.3331C>A MANE Select	NP_002684.1:p.Leu1111Ile