Canonical Allele Identifier: CA393756947

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89866739C>G (hg19) ; chr15:g.89323508C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323508C>G , CM000677.2:g.89323508C>G	GRCh38
NC_000015.9:g.89866739C>G , CM000677.1:g.89866739C>G	GRCh37
NC_000015.8:g.87667743C>G	NCBI36
NG_008218.1:g.16288G>C
NG_008218.2:g.16288G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2161G>C	ENSP00000516154.1:p.Ala721Pro
ENST00000268124.11:c.2161G>C MANE Select	ENSP00000268124.5:p.Ala721Pro
ENST00000530292.3:c.1762G>C	ENSP00000432885.2:p.Ala588Pro
ENST00000635986.2:c.2161G>C	ENSP00000490653.2:p.Ala721Pro
ENST00000636774.1:c.*728G>C	ENSP00000489799.1:n.*728G>C
ENST00000637238.1:c.858G>C	ENSP00000490756.1:n.858G>C
ENST00000637264.1:c.1233G>C
ENST00000666746.1:c.1738G>C
ENST00000670281.1:c.481G>C	ENSP00000499709.1:p.Ala161Pro
ENST00000672071.1:n.2359G>C
ENST00000672923.2:n.2264G>C
ENST00000268124.9:c.2161G>C	ENSP00000268124.5:p.Ala721Pro
ENST00000442287.6:c.2161G>C	ENSP00000399851.2:p.Ala721Pro
ENST00000526314.2:c.539+307G>C
ENST00000526398.1:c.310G>C
ENST00000532584.5:n.363G>C
ENST00000631044.2:c.*1585G>C	ENSP00000486730.1:n.*1585G>C
NM_001126131.1:c.2161G>C	NP_001119603.1:p.Ala721Pro
NM_002693.2:c.2161G>C	NP_002684.1:p.Ala721Pro
NM_001126131.2:c.2161G>C	NP_001119603.1:p.Ala721Pro
NM_002693.3:c.2161G>C MANE Select	NP_002684.1:p.Ala721Pro