Canonical Allele Identifier: CA7724102

Gene: POLG

Linked Data

• ClinVar Variation Id: 1418532
• ClinVar RCV Id: RCV001930962 ; RCV002484532
• dbSNP Id: rs770149949
• ExAC: 15:89860718 C / T
• gnomAD v2: 15-89860718-C-T
• gnomAD v4: 15-89317487-C-T
• MyVariant Identifiers: chr15:g.89860718C>T (hg19) ; chr15:g.89317487C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317487C>T , CM000677.2:g.89317487C>T	GRCh38
NC_000015.9:g.89860718C>T , CM000677.1:g.89860718C>T	GRCh37
NC_000015.8:g.87661722C>T	NCBI36
NG_008218.1:g.22309G>A
NG_011736.1:g.78525C>T , LRG_500:g.78525C>T
NG_008218.2:g.22309G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3532G>A	ENSP00000516154.1:p.Ala1178Thr
ENST00000268124.11:c.3532G>A MANE Select	ENSP00000268124.5:p.Ala1178Thr
ENST00000530292.3:c.3232G>A	ENSP00000432885.2:n.3232G>A
ENST00000635986.2:c.*602G>A	ENSP00000490653.2:n.*602G>A
ENST00000636774.1:c.*2136G>A	ENSP00000489799.1:n.*2136G>A
ENST00000637042.1:n.72-16G>A
ENST00000637238.1:c.2440G>A	ENSP00000490756.1:n.2440G>A
ENST00000637264.1:c.2555-11G>A
ENST00000666746.1:c.3109G>A
ENST00000672071.1:n.4734G>A
ENST00000672695.1:n.1311G>A
ENST00000672923.2:n.3532G>A
ENST00000268124.9:c.3532G>A	ENSP00000268124.5:p.Ala1178Thr
ENST00000442287.6:c.3532G>A	ENSP00000399851.2:p.Ala1178Thr
ENST00000526671.1:n.342G>A
ENST00000530292.2:c.715G>A	ENSP00000432885.1:n.715G>A
ENST00000631044.2:c.*2956G>A	ENSP00000486730.1:n.*2956G>A
NM_001126131.1:c.3532G>A	NP_001119603.1:p.Ala1178Thr
NM_002693.2:c.3532G>A	NP_002684.1:p.Ala1178Thr
NM_001126131.2:c.3532G>A	NP_001119603.1:p.Ala1178Thr
NM_002693.3:c.3532G>A MANE Select	NP_002684.1:p.Ala1178Thr