Canonical Allele Identifier: CA7724092

Gene: POLG

Linked Data

• ClinVar Variation Id: 999657
• ClinVar RCV Id: RCV001295679
• dbSNP Id: rs751698400
• ExAC: 15:89860670 T / C
• gnomAD v2: 15-89860670-T-C
• gnomAD v4: 15-89317439-T-C
• MyVariant Identifiers: chr15:g.89860670T>C (hg19) ; chr15:g.89317439T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317439T>C , CM000677.2:g.89317439T>C	GRCh38
NC_000015.9:g.89860670T>C , CM000677.1:g.89860670T>C	GRCh37
NC_000015.8:g.87661674T>C	NCBI36
NG_008218.1:g.22357A>G
NG_011736.1:g.78477T>C , LRG_500:g.78477T>C
NG_008218.2:g.22357A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3580A>G	ENSP00000516154.1:p.Thr1194Ala
ENST00000268124.11:c.3580A>G MANE Select	ENSP00000268124.5:p.Thr1194Ala
ENST00000530292.3:c.3280A>G	ENSP00000432885.2:n.3280A>G
ENST00000635986.2:c.*650A>G	ENSP00000490653.2:n.*650A>G
ENST00000636774.1:c.*2184A>G	ENSP00000489799.1:n.*2184A>G
ENST00000637238.1:c.2488A>G	ENSP00000490756.1:n.2488A>G
ENST00000637264.1:c.2592A>G
ENST00000666746.1:c.3157A>G
ENST00000672071.1:n.4782A>G
ENST00000672695.1:n.1359A>G
ENST00000672923.2:n.3580A>G
ENST00000268124.9:c.3580A>G	ENSP00000268124.5:p.Thr1194Ala
ENST00000442287.6:c.3580A>G	ENSP00000399851.2:p.Thr1194Ala
ENST00000526671.1:n.390A>G
ENST00000530292.2:c.763A>G	ENSP00000432885.1:n.763A>G
ENST00000631044.2:c.*3004A>G	ENSP00000486730.1:n.*3004A>G
NM_001126131.1:c.3580A>G	NP_001119603.1:p.Thr1194Ala
NM_002693.2:c.3580A>G	NP_002684.1:p.Thr1194Ala
NM_001126131.2:c.3580A>G	NP_001119603.1:p.Thr1194Ala
NM_002693.3:c.3580A>G MANE Select	NP_002684.1:p.Thr1194Ala