Canonical Allele Identifier: CA393759370

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89868846T>A (hg19) ; chr15:g.89325615T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325615T>A , CM000677.2:g.89325615T>A	GRCh38
NC_000015.9:g.89868846T>A , CM000677.1:g.89868846T>A	GRCh37
NC_000015.8:g.87669850T>A	NCBI36
NG_008218.1:g.14181A>T
NG_008218.2:g.14181A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1784A>T	ENSP00000516154.1:p.Gln595Leu
ENST00000268124.11:c.1784A>T MANE Select	ENSP00000268124.5:p.Gln595Leu
ENST00000530292.3:c.1385A>T	ENSP00000432885.2:p.Gln462Leu
ENST00000635986.2:c.1784A>T	ENSP00000490653.2:p.Gln595Leu
ENST00000636774.1:c.*351A>T	ENSP00000489799.1:n.*351A>T
ENST00000637238.1:c.521A>T	ENSP00000490756.1:p.Gln174Leu
ENST00000637264.1:c.856A>T
ENST00000666746.1:c.1361A>T
ENST00000670281.1:c.104A>T	ENSP00000499709.1:p.Gln35Leu
ENST00000672071.1:n.1982A>T
ENST00000672923.2:n.1887A>T
ENST00000268124.9:c.1784A>T	ENSP00000268124.5:p.Gln595Leu
ENST00000442287.6:c.1784A>T	ENSP00000399851.2:p.Gln595Leu
ENST00000526314.2:c.166A>T
ENST00000631044.2:c.*1167A>T	ENSP00000486730.1:n.*1167A>T
NM_001126131.1:c.1784A>T	NP_001119603.1:p.Gln595Leu
NM_002693.2:c.1784A>T	NP_002684.1:p.Gln595Leu
NM_001126131.2:c.1784A>T	NP_001119603.1:p.Gln595Leu
NM_002693.3:c.1784A>T MANE Select	NP_002684.1:p.Gln595Leu