Canonical Allele Identifier: CA7724089

Gene: POLG

Linked Data

• dbSNP Id: rs753020294
• ExAC: 15:89860665 C / T
• gnomAD v2: 15-89860665-C-T
• gnomAD v4: 15-89317434-C-T
• MyVariant Identifiers: chr15:g.89860665C>T (hg19) ; chr15:g.89317434C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317434C>T , CM000677.2:g.89317434C>T	GRCh38
NC_000015.9:g.89860665C>T , CM000677.1:g.89860665C>T	GRCh37
NC_000015.8:g.87661669C>T	NCBI36
NG_008218.1:g.22362G>A
NG_011736.1:g.78472C>T , LRG_500:g.78472C>T
NG_008218.2:g.22362G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3585G>A	ENSP00000516154.1:p.Met1195Ile
ENST00000268124.11:c.3585G>A MANE Select	ENSP00000268124.5:p.Met1195Ile
ENST00000530292.3:c.3285G>A	ENSP00000432885.2:n.3285G>A
ENST00000635986.2:c.*655G>A	ENSP00000490653.2:n.*655G>A
ENST00000636774.1:c.*2189G>A	ENSP00000489799.1:n.*2189G>A
ENST00000637238.1:c.2493G>A	ENSP00000490756.1:n.2493G>A
ENST00000637264.1:c.2597G>A
ENST00000666746.1:c.3162G>A
ENST00000672071.1:n.4787G>A
ENST00000672695.1:n.1364G>A
ENST00000672923.2:n.3585G>A
ENST00000268124.9:c.3585G>A	ENSP00000268124.5:p.Met1195Ile
ENST00000442287.6:c.3585G>A	ENSP00000399851.2:p.Met1195Ile
ENST00000526671.1:n.395G>A
ENST00000530292.2:c.768G>A	ENSP00000432885.1:n.768G>A
ENST00000631044.2:c.*3009G>A	ENSP00000486730.1:n.*3009G>A
NM_001126131.1:c.3585G>A	NP_001119603.1:p.Met1195Ile
NM_002693.2:c.3585G>A	NP_002684.1:p.Met1195Ile
NM_001126131.2:c.3585G>A	NP_001119603.1:p.Met1195Ile
NM_002693.3:c.3585G>A MANE Select	NP_002684.1:p.Met1195Ile