Canonical Allele Identifier: CA393749844

Gene: POLG

Linked Data

• dbSNP Id: rs2055343684
• MyVariant Identifiers: chr15:g.89861868A>G (hg19) ; chr15:g.89318637A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318637A>G , CM000677.2:g.89318637A>G	GRCh38
NC_000015.9:g.89861868A>G , CM000677.1:g.89861868A>G	GRCh37
NC_000015.8:g.87662872A>G	NCBI36
NG_008218.1:g.21159T>C
NG_011736.1:g.79675A>G , LRG_500:g.79675A>G
NG_008218.2:g.21159T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3386T>C	ENSP00000516154.1:p.Phe1129Ser
ENST00000268124.11:c.3386T>C MANE Select	ENSP00000268124.5:p.Phe1129Ser
ENST00000530292.3:c.2987T>C	ENSP00000432885.2:p.Phe996Ser
ENST00000635986.2:c.*456T>C	ENSP00000490653.2:n.*456T>C
ENST00000636774.1:c.*1953T>C	ENSP00000489799.1:n.*1953T>C
ENST00000637238.1:c.2195T>C	ENSP00000490756.1:n.2195T>C
ENST00000637264.1:c.2458T>C
ENST00000666746.1:c.2963T>C
ENST00000672071.1:n.3584T>C
ENST00000672695.1:n.563T>C
ENST00000672923.2:n.3386T>C
ENST00000268124.9:c.3386T>C	ENSP00000268124.5:p.Phe1129Ser
ENST00000442287.6:c.3386T>C	ENSP00000399851.2:p.Phe1129Ser
ENST00000530292.2:c.470T>C	ENSP00000432885.1:p.Phe157Ser
ENST00000631044.2:c.*2810T>C	ENSP00000486730.1:n.*2810T>C
NM_001126131.1:c.3386T>C	NP_001119603.1:p.Phe1129Ser
NM_002693.2:c.3386T>C	NP_002684.1:p.Phe1129Ser
NM_001126131.2:c.3386T>C	NP_001119603.1:p.Phe1129Ser
NM_002693.3:c.3386T>C MANE Select	NP_002684.1:p.Phe1129Ser