Canonical Allele Identifier: CA492070868

Gene: POLG

Linked Data

• ClinVar Variation Id: 2827404
• ClinVar RCV Id: RCV003628137
• dbSNP Id: rs1261493641
• gnomAD v3: 15-89317533-G-A
• gnomAD v4: 15-89317533-G-A
• MyVariant Identifiers: chr15:g.89860764G>A (hg19) ; chr15:g.89317533G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317533G>A , CM000677.2:g.89317533G>A	GRCh38
NC_000015.9:g.89860764G>A , CM000677.1:g.89860764G>A	GRCh37
NC_000015.8:g.87661768G>A	NCBI36
NG_008218.1:g.22263C>T
NG_011736.1:g.78571G>A , LRG_500:g.78571G>A
NG_008218.2:g.22263C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3486C>T	ENSP00000516154.1:p.Cys1162=
ENST00000268124.11:c.3486C>T MANE Select	ENSP00000268124.5:p.Cys1162=
ENST00000530292.3:c.3186C>T	ENSP00000432885.2:n.3186C>T
ENST00000635986.2:c.*556C>T	ENSP00000490653.2:n.*556C>T
ENST00000636774.1:c.*2090C>T	ENSP00000489799.1:n.*2090C>T
ENST00000637042.1:n.72-62C>T
ENST00000637238.1:c.2394C>T	ENSP00000490756.1:n.2394C>T
ENST00000637264.1:c.2555-57C>T
ENST00000666746.1:c.3063C>T
ENST00000672071.1:n.4688C>T
ENST00000672695.1:n.1265C>T
ENST00000672923.2:n.3486C>T
ENST00000268124.9:c.3486C>T	ENSP00000268124.5:p.Cys1162=
ENST00000442287.6:c.3486C>T	ENSP00000399851.2:p.Cys1162=
ENST00000526671.1:n.296C>T
ENST00000530292.2:c.669C>T	ENSP00000432885.1:n.669C>T
ENST00000631044.2:c.*2910C>T	ENSP00000486730.1:n.*2910C>T
NM_001126131.1:c.3486C>T	NP_001119603.1:p.Cys1162=
NM_002693.2:c.3486C>T	NP_002684.1:p.Cys1162=
NM_001126131.2:c.3486C>T	NP_001119603.1:p.Cys1162=
NM_002693.3:c.3486C>T MANE Select	NP_002684.1:p.Cys1162=