Canonical Allele Identifier: CA316760

Gene: POLG

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318617C>T , CM000677.2:g.89318617C>T	GRCh38
NC_000015.9:g.89861848C>T , CM000677.1:g.89861848C>T	GRCh37
NC_000015.8:g.87662852C>T	NCBI36
NG_008218.1:g.21179G>A
NG_011736.1:g.79655C>T , LRG_500:g.79655C>T
NG_008218.2:g.21179G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3406G>A	ENSP00000516154.1:p.Glu1136Lys
ENST00000268124.11:c.3406G>A MANE Select	ENSP00000268124.5:p.Glu1136Lys
ENST00000530292.3:c.3007G>A	ENSP00000432885.2:p.Glu1003Lys
ENST00000635986.2:c.*476G>A	ENSP00000490653.2:n.*476G>A
ENST00000636774.1:c.*1973G>A	ENSP00000489799.1:n.*1973G>A
ENST00000637238.1:c.2215G>A	ENSP00000490756.1:n.2215G>A
ENST00000637264.1:c.2478G>A
ENST00000666746.1:c.2983G>A
ENST00000672071.1:n.3604G>A
ENST00000672695.1:n.583G>A
ENST00000672923.2:n.3406G>A
ENST00000268124.9:c.3406G>A	ENSP00000268124.5:p.Glu1136Lys
ENST00000442287.6:c.3406G>A	ENSP00000399851.2:p.Glu1136Lys
ENST00000530292.2:c.490G>A	ENSP00000432885.1:p.Glu164Lys
ENST00000631044.2:c.*2830G>A	ENSP00000486730.1:n.*2830G>A
NM_001126131.1:c.3406G>A	NP_001119603.1:p.Glu1136Lys
NM_002693.2:c.3406G>A	NP_002684.1:p.Glu1136Lys
NM_001126131.2:c.3406G>A	NP_001119603.1:p.Glu1136Lys
NM_002693.3:c.3406G>A MANE Select	NP_002684.1:p.Glu1136Lys