Canonical Allele Identifier: CA393747768

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89860712A>G (hg19) ; chr15:g.89317481A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317481A>G , CM000677.2:g.89317481A>G	GRCh38
NC_000015.9:g.89860712A>G , CM000677.1:g.89860712A>G	GRCh37
NC_000015.8:g.87661716A>G	NCBI36
NG_008218.1:g.22315T>C
NG_011736.1:g.78519A>G , LRG_500:g.78519A>G
NG_008218.2:g.22315T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3538T>C	ENSP00000516154.1:p.Phe1180Leu
ENST00000268124.11:c.3538T>C MANE Select	ENSP00000268124.5:p.Phe1180Leu
ENST00000530292.3:c.3238T>C	ENSP00000432885.2:n.3238T>C
ENST00000635986.2:c.*608T>C	ENSP00000490653.2:n.*608T>C
ENST00000636774.1:c.*2142T>C	ENSP00000489799.1:n.*2142T>C
ENST00000637042.1:n.72-10T>C
ENST00000637238.1:c.2446T>C	ENSP00000490756.1:n.2446T>C
ENST00000637264.1:c.2555-5T>C
ENST00000666746.1:c.3115T>C
ENST00000672071.1:n.4740T>C
ENST00000672695.1:n.1317T>C
ENST00000672923.2:n.3538T>C
ENST00000268124.9:c.3538T>C	ENSP00000268124.5:p.Phe1180Leu
ENST00000442287.6:c.3538T>C	ENSP00000399851.2:p.Phe1180Leu
ENST00000526671.1:n.348T>C
ENST00000530292.2:c.721T>C	ENSP00000432885.1:n.721T>C
ENST00000631044.2:c.*2962T>C	ENSP00000486730.1:n.*2962T>C
NM_001126131.1:c.3538T>C	NP_001119603.1:p.Phe1180Leu
NM_002693.2:c.3538T>C	NP_002684.1:p.Phe1180Leu
NM_001126131.2:c.3538T>C	NP_001119603.1:p.Phe1180Leu
NM_002693.3:c.3538T>C MANE Select	NP_002684.1:p.Phe1180Leu