Canonical Allele Identifier: CA393759193

Gene: POLG

Linked Data

• dbSNP Id: rs758438414
• MyVariant Identifiers: chr15:g.89868762A>G (hg19) ; chr15:g.89325531A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325531A>G , CM000677.2:g.89325531A>G	GRCh38
NC_000015.9:g.89868762A>G , CM000677.1:g.89868762A>G	GRCh37
NC_000015.8:g.87669766A>G	NCBI36
NG_008218.1:g.14265T>C
NG_008218.2:g.14265T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.1868T>C	ENSP00000516154.1:p.Leu623Ser
ENST00000268124.11:c.1868T>C MANE Select	ENSP00000268124.5:p.Leu623Ser
ENST00000530292.3:c.1469T>C	ENSP00000432885.2:p.Leu490Ser
ENST00000635986.2:c.1868T>C	ENSP00000490653.2:p.Leu623Ser
ENST00000636774.1:c.*435T>C	ENSP00000489799.1:n.*435T>C
ENST00000637238.1:c.605T>C	ENSP00000490756.1:p.Leu202Ser
ENST00000637264.1:c.940T>C
ENST00000666746.1:c.1445T>C
ENST00000670281.1:c.188T>C	ENSP00000499709.1:p.Leu63Ser
ENST00000672071.1:n.2066T>C
ENST00000672923.2:n.1971T>C
ENST00000268124.9:c.1868T>C	ENSP00000268124.5:p.Leu623Ser
ENST00000442287.6:c.1868T>C	ENSP00000399851.2:p.Leu623Ser
ENST00000526314.2:c.250T>C
ENST00000526398.1:c.57T>C
ENST00000532584.5:n.70T>C
ENST00000631044.2:c.*1251T>C	ENSP00000486730.1:n.*1251T>C
NM_001126131.1:c.1868T>C	NP_001119603.1:p.Leu623Ser
NM_002693.2:c.1868T>C	NP_002684.1:p.Leu623Ser
NM_001126131.2:c.1868T>C	NP_001119603.1:p.Leu623Ser
NM_002693.3:c.1868T>C MANE Select	NP_002684.1:p.Leu623Ser