Canonical Allele Identifier: CA10602279

Gene: POLG

Linked Data

• ClinVar Variation Id: 413485
• ClinVar RCV Id: RCV000465233 ; RCV000516266 ; RCV003985790
• dbSNP Id: rs953889846
• gnomAD v2: 15-89860731-C-T
• gnomAD v3: 15-89317500-C-T
• gnomAD v4: 15-89317500-C-T
• MyVariant Identifiers: chr15:g.89860731C>T (hg19) ; chr15:g.89317500C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317500C>T , CM000677.2:g.89317500C>T	GRCh38
NC_000015.9:g.89860731C>T , CM000677.1:g.89860731C>T	GRCh37
NC_000015.8:g.87661735C>T	NCBI36
NG_008218.1:g.22296G>A
NG_011736.1:g.78538C>T , LRG_500:g.78538C>T
NG_008218.2:g.22296G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3519G>A	ENSP00000516154.1:p.Leu1173=
ENST00000268124.11:c.3519G>A MANE Select	ENSP00000268124.5:p.Leu1173=
ENST00000530292.3:c.3219G>A	ENSP00000432885.2:n.3219G>A
ENST00000635986.2:c.*589G>A	ENSP00000490653.2:n.*589G>A
ENST00000636774.1:c.*2123G>A	ENSP00000489799.1:n.*2123G>A
ENST00000637042.1:n.72-29G>A
ENST00000637238.1:c.2427G>A	ENSP00000490756.1:n.2427G>A
ENST00000637264.1:c.2555-24G>A
ENST00000666746.1:c.3096G>A
ENST00000672071.1:n.4721G>A
ENST00000672695.1:n.1298G>A
ENST00000672923.2:n.3519G>A
ENST00000268124.9:c.3519G>A	ENSP00000268124.5:p.Leu1173=
ENST00000442287.6:c.3519G>A	ENSP00000399851.2:p.Leu1173=
ENST00000526671.1:n.329G>A
ENST00000530292.2:c.702G>A	ENSP00000432885.1:n.702G>A
ENST00000631044.2:c.*2943G>A	ENSP00000486730.1:n.*2943G>A
NM_001126131.1:c.3519G>A	NP_001119603.1:p.Leu1173=
NM_002693.2:c.3519G>A	NP_002684.1:p.Leu1173=
NM_001126131.2:c.3519G>A	NP_001119603.1:p.Leu1173=
NM_002693.3:c.3519G>A MANE Select	NP_002684.1:p.Leu1173=