Canonical Allele Identifier: CA7724107

Gene: POLG

Linked Data

• dbSNP Id: rs762019809
• ExAC: 15:89860730 G / T
• gnomAD v2: 15-89860730-G-T
• gnomAD v4: 15-89317499-G-T
• MyVariant Identifiers: chr15:g.89860730G>T (hg19) ; chr15:g.89317499G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317499G>T , CM000677.2:g.89317499G>T	GRCh38
NC_000015.9:g.89860730G>T , CM000677.1:g.89860730G>T	GRCh37
NC_000015.8:g.87661734G>T	NCBI36
NG_008218.1:g.22297C>A
NG_011736.1:g.78537G>T , LRG_500:g.78537G>T
NG_008218.2:g.22297C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3520C>A	ENSP00000516154.1:p.Pro1174Thr
ENST00000268124.11:c.3520C>A MANE Select	ENSP00000268124.5:p.Pro1174Thr
ENST00000530292.3:c.3220C>A	ENSP00000432885.2:n.3220C>A
ENST00000635986.2:c.*590C>A	ENSP00000490653.2:n.*590C>A
ENST00000636774.1:c.*2124C>A	ENSP00000489799.1:n.*2124C>A
ENST00000637042.1:n.72-28C>A
ENST00000637238.1:c.2428C>A	ENSP00000490756.1:n.2428C>A
ENST00000637264.1:c.2555-23C>A
ENST00000666746.1:c.3097C>A
ENST00000672071.1:n.4722C>A
ENST00000672695.1:n.1299C>A
ENST00000672923.2:n.3520C>A
ENST00000268124.9:c.3520C>A	ENSP00000268124.5:p.Pro1174Thr
ENST00000442287.6:c.3520C>A	ENSP00000399851.2:p.Pro1174Thr
ENST00000526671.1:n.330C>A
ENST00000530292.2:c.703C>A	ENSP00000432885.1:n.703C>A
ENST00000631044.2:c.*2944C>A	ENSP00000486730.1:n.*2944C>A
NM_001126131.1:c.3520C>A	NP_001119603.1:p.Pro1174Thr
NM_002693.2:c.3520C>A	NP_002684.1:p.Pro1174Thr
NM_001126131.2:c.3520C>A	NP_001119603.1:p.Pro1174Thr
NM_002693.3:c.3520C>A MANE Select	NP_002684.1:p.Pro1174Thr