Canonical Allele Identifier: CA393751163

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89862312C>G (hg19) ; chr15:g.89319081C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89319081C>G , CM000677.2:g.89319081C>G	GRCh38
NC_000015.9:g.89862312C>G , CM000677.1:g.89862312C>G	GRCh37
NC_000015.8:g.87663316C>G	NCBI36
NG_008218.1:g.20715G>C
NG_011736.1:g.80119C>G , LRG_500:g.80119C>G
NG_008218.2:g.20715G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3123G>C	ENSP00000516154.1:p.Trp1041Cys
ENST00000268124.11:c.3123G>C MANE Select	ENSP00000268124.5:p.Trp1041Cys
ENST00000530292.3:c.2724G>C	ENSP00000432885.2:p.Trp908Cys
ENST00000635986.2:c.*193G>C	ENSP00000490653.2:n.*193G>C
ENST00000636530.1:n.83G>C
ENST00000636774.1:c.*1690G>C	ENSP00000489799.1:n.*1690G>C
ENST00000637238.1:c.1932G>C	ENSP00000490756.1:n.1932G>C
ENST00000637264.1:c.2195G>C
ENST00000666746.1:c.2700G>C
ENST00000672071.1:n.3321G>C
ENST00000672695.1:n.300G>C
ENST00000672923.2:n.3123G>C
ENST00000268124.9:c.3123G>C	ENSP00000268124.5:p.Trp1041Cys
ENST00000442287.6:c.3123G>C	ENSP00000399851.2:p.Trp1041Cys
ENST00000530292.2:c.207G>C	ENSP00000432885.1:p.Trp69Cys
ENST00000631044.2:c.*2547G>C	ENSP00000486730.1:n.*2547G>C
NM_001126131.1:c.3123G>C	NP_001119603.1:p.Trp1041Cys
NM_002693.2:c.3123G>C	NP_002684.1:p.Trp1041Cys
NM_001126131.2:c.3123G>C	NP_001119603.1:p.Trp1041Cys
NM_002693.3:c.3123G>C MANE Select	NP_002684.1:p.Trp1041Cys