Canonical Allele Identifier: CA393749941

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89861914C>A (hg19) ; chr15:g.89318683C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318683C>A , CM000677.2:g.89318683C>A	GRCh38
NC_000015.9:g.89861914C>A , CM000677.1:g.89861914C>A	GRCh37
NC_000015.8:g.87662918C>A	NCBI36
NG_008218.1:g.21113G>T
NG_011736.1:g.79721C>A , LRG_500:g.79721C>A
NG_008218.2:g.21113G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3340G>T	ENSP00000516154.1:p.Val1114Leu
ENST00000268124.11:c.3340G>T MANE Select	ENSP00000268124.5:p.Val1114Leu
ENST00000530292.3:c.2941G>T	ENSP00000432885.2:p.Val981Leu
ENST00000635986.2:c.*410G>T	ENSP00000490653.2:n.*410G>T
ENST00000636774.1:c.*1907G>T	ENSP00000489799.1:n.*1907G>T
ENST00000637238.1:c.2149G>T	ENSP00000490756.1:n.2149G>T
ENST00000637264.1:c.2412G>T
ENST00000666746.1:c.2917G>T
ENST00000672071.1:n.3538G>T
ENST00000672695.1:n.517G>T
ENST00000672923.2:n.3340G>T
ENST00000268124.9:c.3340G>T	ENSP00000268124.5:p.Val1114Leu
ENST00000442287.6:c.3340G>T	ENSP00000399851.2:p.Val1114Leu
ENST00000530292.2:c.424G>T	ENSP00000432885.1:p.Val142Leu
ENST00000631044.2:c.*2764G>T	ENSP00000486730.1:n.*2764G>T
NM_001126131.1:c.3340G>T	NP_001119603.1:p.Val1114Leu
NM_002693.2:c.3340G>T	NP_002684.1:p.Val1114Leu
NM_001126131.2:c.3340G>T	NP_001119603.1:p.Val1114Leu
NM_002693.3:c.3340G>T MANE Select	NP_002684.1:p.Val1114Leu