Canonical Allele Identifier: CA393756823

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89866708C>A (hg19) ; chr15:g.89323477C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323477C>A , CM000677.2:g.89323477C>A	GRCh38
NC_000015.9:g.89866708C>A , CM000677.1:g.89866708C>A	GRCh37
NC_000015.8:g.87667712C>A	NCBI36
NG_008218.1:g.16319G>T
NG_008218.2:g.16319G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2192G>T	ENSP00000516154.1:p.Ser731Ile
ENST00000268124.11:c.2192G>T MANE Select	ENSP00000268124.5:p.Ser731Ile
ENST00000530292.3:c.1793G>T	ENSP00000432885.2:p.Ser598Ile
ENST00000635986.2:c.2192G>T	ENSP00000490653.2:p.Ser731Ile
ENST00000636774.1:c.*759G>T	ENSP00000489799.1:n.*759G>T
ENST00000637238.1:c.889G>T	ENSP00000490756.1:n.889G>T
ENST00000637264.1:c.1264G>T
ENST00000666746.1:c.1769G>T
ENST00000670281.1:c.512G>T	ENSP00000499709.1:p.Ser171Ile
ENST00000672071.1:n.2390G>T
ENST00000672923.2:n.2295G>T
ENST00000268124.9:c.2192G>T	ENSP00000268124.5:p.Ser731Ile
ENST00000442287.6:c.2192G>T	ENSP00000399851.2:p.Ser731Ile
ENST00000526314.2:c.539+338G>T
ENST00000526398.1:c.341G>T
ENST00000532584.5:n.394G>T
ENST00000631044.2:c.*1616G>T	ENSP00000486730.1:n.*1616G>T
NM_001126131.1:c.2192G>T	NP_001119603.1:p.Ser731Ile
NM_002693.2:c.2192G>T	NP_002684.1:p.Ser731Ile
NM_001126131.2:c.2192G>T	NP_001119603.1:p.Ser731Ile
NM_002693.3:c.2192G>T MANE Select	NP_002684.1:p.Ser731Ile