Canonical Allele Identifier: CA393756832

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89866709T>G (hg19) ; chr15:g.89323478T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323478T>G , CM000677.2:g.89323478T>G	GRCh38
NC_000015.9:g.89866709T>G , CM000677.1:g.89866709T>G	GRCh37
NC_000015.8:g.87667713T>G	NCBI36
NG_008218.1:g.16318A>C
NG_008218.2:g.16318A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2191A>C	ENSP00000516154.1:p.Ser731Arg
ENST00000268124.11:c.2191A>C MANE Select	ENSP00000268124.5:p.Ser731Arg
ENST00000530292.3:c.1792A>C	ENSP00000432885.2:p.Ser598Arg
ENST00000635986.2:c.2191A>C	ENSP00000490653.2:p.Ser731Arg
ENST00000636774.1:c.*758A>C	ENSP00000489799.1:n.*758A>C
ENST00000637238.1:c.888A>C	ENSP00000490756.1:n.888A>C
ENST00000637264.1:c.1263A>C
ENST00000666746.1:c.1768A>C
ENST00000670281.1:c.511A>C	ENSP00000499709.1:p.Ser171Arg
ENST00000672071.1:n.2389A>C
ENST00000672923.2:n.2294A>C
ENST00000268124.9:c.2191A>C	ENSP00000268124.5:p.Ser731Arg
ENST00000442287.6:c.2191A>C	ENSP00000399851.2:p.Ser731Arg
ENST00000526314.2:c.539+337A>C
ENST00000526398.1:c.340A>C
ENST00000532584.5:n.393A>C
ENST00000631044.2:c.*1615A>C	ENSP00000486730.1:n.*1615A>C
NM_001126131.1:c.2191A>C	NP_001119603.1:p.Ser731Arg
NM_002693.2:c.2191A>C	NP_002684.1:p.Ser731Arg
NM_001126131.2:c.2191A>C	NP_001119603.1:p.Ser731Arg
NM_002693.3:c.2191A>C MANE Select	NP_002684.1:p.Ser731Arg