Canonical Allele Identifier: CA393748218

Gene: POLG

Linked Data

• gnomAD v4: 15-89317534-C-G
• MyVariant Identifiers: chr15:g.89860765C>G (hg19) ; chr15:g.89317534C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317534C>G , CM000677.2:g.89317534C>G	GRCh38
NC_000015.9:g.89860765C>G , CM000677.1:g.89860765C>G	GRCh37
NC_000015.8:g.87661769C>G	NCBI36
NG_008218.1:g.22262G>C
NG_011736.1:g.78572C>G , LRG_500:g.78572C>G
NG_008218.2:g.22262G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3485G>C	ENSP00000516154.1:p.Cys1162Ser
ENST00000268124.11:c.3485G>C MANE Select	ENSP00000268124.5:p.Cys1162Ser
ENST00000530292.3:c.3185G>C	ENSP00000432885.2:n.3185G>C
ENST00000635986.2:c.*555G>C	ENSP00000490653.2:n.*555G>C
ENST00000636774.1:c.*2089G>C	ENSP00000489799.1:n.*2089G>C
ENST00000637042.1:n.72-63G>C
ENST00000637238.1:c.2393G>C	ENSP00000490756.1:n.2393G>C
ENST00000637264.1:c.2555-58G>C
ENST00000666746.1:c.3062G>C
ENST00000672071.1:n.4687G>C
ENST00000672695.1:n.1264G>C
ENST00000672923.2:n.3485G>C
ENST00000268124.9:c.3485G>C	ENSP00000268124.5:p.Cys1162Ser
ENST00000442287.6:c.3485G>C	ENSP00000399851.2:p.Cys1162Ser
ENST00000526671.1:n.295G>C
ENST00000530292.2:c.668G>C	ENSP00000432885.1:n.668G>C
ENST00000631044.2:c.*2909G>C	ENSP00000486730.1:n.*2909G>C
NM_001126131.1:c.3485G>C	NP_001119603.1:p.Cys1162Ser
NM_002693.2:c.3485G>C	NP_002684.1:p.Cys1162Ser
NM_001126131.2:c.3485G>C	NP_001119603.1:p.Cys1162Ser
NM_002693.3:c.3485G>C MANE Select	NP_002684.1:p.Cys1162Ser