Canonical Allele Identifier: CA316784

Gene: POLG

Linked Data

• ClinVar Variation Id: 206570
• ClinVar RCV Id: RCV000188627 ; RCV000633564 ; RCV000712805 ; RCV001847832 ; RCV002453696 ; RCV003985759
• dbSNP Id: rs369544574
• ExAC: 15:89860691 G / A
• gnomAD v2: 15-89860691-G-A
• gnomAD v3: 15-89317460-G-A
• gnomAD v4: 15-89317460-G-A
• MyVariant Identifiers: chr15:g.89860691G>A (hg19) ; chr15:g.89317460G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317460G>A , CM000677.2:g.89317460G>A	GRCh38
NC_000015.9:g.89860691G>A , CM000677.1:g.89860691G>A	GRCh37
NC_000015.8:g.87661695G>A	NCBI36
NG_008218.1:g.22336C>T
NG_011736.1:g.78498G>A , LRG_500:g.78498G>A
NG_008218.2:g.22336C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3559C>T	ENSP00000516154.1:p.Arg1187Trp
ENST00000268124.11:c.3559C>T MANE Select	ENSP00000268124.5:p.Arg1187Trp
ENST00000530292.3:c.3259C>T	ENSP00000432885.2:n.3259C>T
ENST00000635986.2:c.*629C>T	ENSP00000490653.2:n.*629C>T
ENST00000636774.1:c.*2163C>T	ENSP00000489799.1:n.*2163C>T
ENST00000637042.1:n.83C>T
ENST00000637238.1:c.2467C>T	ENSP00000490756.1:n.2467C>T
ENST00000637264.1:c.2571C>T
ENST00000666746.1:c.3136C>T
ENST00000672071.1:n.4761C>T
ENST00000672695.1:n.1338C>T
ENST00000672923.2:n.3559C>T
ENST00000268124.9:c.3559C>T	ENSP00000268124.5:p.Arg1187Trp
ENST00000442287.6:c.3559C>T	ENSP00000399851.2:p.Arg1187Trp
ENST00000526671.1:n.369C>T
ENST00000530292.2:c.742C>T	ENSP00000432885.1:n.742C>T
ENST00000631044.2:c.*2983C>T	ENSP00000486730.1:n.*2983C>T
NM_001126131.1:c.3559C>T	NP_001119603.1:p.Arg1187Trp
NM_002693.2:c.3559C>T	NP_002684.1:p.Arg1187Trp
NM_001126131.2:c.3559C>T	NP_001119603.1:p.Arg1187Trp
NM_002693.3:c.3559C>T MANE Select	NP_002684.1:p.Arg1187Trp