Canonical Allele Identifier: CA393748144

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89860756G>T (hg19) ; chr15:g.89317525G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317525G>T , CM000677.2:g.89317525G>T	GRCh38
NC_000015.9:g.89860756G>T , CM000677.1:g.89860756G>T	GRCh37
NC_000015.8:g.87661760G>T	NCBI36
NG_008218.1:g.22271C>A
NG_011736.1:g.78563G>T , LRG_500:g.78563G>T
NG_008218.2:g.22271C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3494C>A	ENSP00000516154.1:p.Ala1165Asp
ENST00000268124.11:c.3494C>A MANE Select	ENSP00000268124.5:p.Ala1165Asp
ENST00000530292.3:c.3194C>A	ENSP00000432885.2:n.3194C>A
ENST00000635986.2:c.*564C>A	ENSP00000490653.2:n.*564C>A
ENST00000636774.1:c.*2098C>A	ENSP00000489799.1:n.*2098C>A
ENST00000637042.1:n.72-54C>A
ENST00000637238.1:c.2402C>A	ENSP00000490756.1:n.2402C>A
ENST00000637264.1:c.2555-49C>A
ENST00000666746.1:c.3071C>A
ENST00000672071.1:n.4696C>A
ENST00000672695.1:n.1273C>A
ENST00000672923.2:n.3494C>A
ENST00000268124.9:c.3494C>A	ENSP00000268124.5:p.Ala1165Asp
ENST00000442287.6:c.3494C>A	ENSP00000399851.2:p.Ala1165Asp
ENST00000526671.1:n.304C>A
ENST00000530292.2:c.677C>A	ENSP00000432885.1:n.677C>A
ENST00000631044.2:c.*2918C>A	ENSP00000486730.1:n.*2918C>A
NM_001126131.1:c.3494C>A	NP_001119603.1:p.Ala1165Asp
NM_002693.2:c.3494C>A	NP_002684.1:p.Ala1165Asp
NM_001126131.2:c.3494C>A	NP_001119603.1:p.Ala1165Asp
NM_002693.3:c.3494C>A MANE Select	NP_002684.1:p.Ala1165Asp