Canonical Allele Identifier: CA393747881

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89860726T>A (hg19) ; chr15:g.89317495T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317495T>A , CM000677.2:g.89317495T>A	GRCh38
NC_000015.9:g.89860726T>A , CM000677.1:g.89860726T>A	GRCh37
NC_000015.8:g.87661730T>A	NCBI36
NG_008218.1:g.22301A>T
NG_011736.1:g.78533T>A , LRG_500:g.78533T>A
NG_008218.2:g.22301A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3524A>T	ENSP00000516154.1:p.Gln1175Leu
ENST00000268124.11:c.3524A>T MANE Select	ENSP00000268124.5:p.Gln1175Leu
ENST00000530292.3:c.3224A>T	ENSP00000432885.2:n.3224A>T
ENST00000635986.2:c.*594A>T	ENSP00000490653.2:n.*594A>T
ENST00000636774.1:c.*2128A>T	ENSP00000489799.1:n.*2128A>T
ENST00000637042.1:n.72-24A>T
ENST00000637238.1:c.2432A>T	ENSP00000490756.1:n.2432A>T
ENST00000637264.1:c.2555-19A>T
ENST00000666746.1:c.3101A>T
ENST00000672071.1:n.4726A>T
ENST00000672695.1:n.1303A>T
ENST00000672923.2:n.3524A>T
ENST00000268124.9:c.3524A>T	ENSP00000268124.5:p.Gln1175Leu
ENST00000442287.6:c.3524A>T	ENSP00000399851.2:p.Gln1175Leu
ENST00000526671.1:n.334A>T
ENST00000530292.2:c.707A>T	ENSP00000432885.1:n.707A>T
ENST00000631044.2:c.*2948A>T	ENSP00000486730.1:n.*2948A>T
NM_001126131.1:c.3524A>T	NP_001119603.1:p.Gln1175Leu
NM_002693.2:c.3524A>T	NP_002684.1:p.Gln1175Leu
NM_001126131.2:c.3524A>T	NP_001119603.1:p.Gln1175Leu
NM_002693.3:c.3524A>T MANE Select	NP_002684.1:p.Gln1175Leu