Canonical Allele Identifier: CA316600

Gene: POLG

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89319037T>G , CM000677.2:g.89319037T>G	GRCh38
NC_000015.9:g.89862268T>G , CM000677.1:g.89862268T>G	GRCh37
NC_000015.8:g.87663272T>G	NCBI36
NG_008218.1:g.20759A>C
NG_011736.1:g.80075T>G , LRG_500:g.80075T>G
NG_008218.2:g.20759A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3167A>C	ENSP00000516154.1:p.Glu1056Ala
ENST00000268124.11:c.3167A>C MANE Select	ENSP00000268124.5:p.Glu1056Ala
ENST00000530292.3:c.2768A>C	ENSP00000432885.2:p.Glu923Ala
ENST00000635986.2:c.*237A>C	ENSP00000490653.2:n.*237A>C
ENST00000636774.1:c.*1734A>C	ENSP00000489799.1:n.*1734A>C
ENST00000637238.1:c.1976A>C	ENSP00000490756.1:n.1976A>C
ENST00000637264.1:c.2239A>C
ENST00000666746.1:c.2744A>C
ENST00000672071.1:n.3365A>C
ENST00000672695.1:n.344A>C
ENST00000672923.2:n.3167A>C
ENST00000268124.9:c.3167A>C	ENSP00000268124.5:p.Glu1056Ala
ENST00000442287.6:c.3167A>C	ENSP00000399851.2:p.Glu1056Ala
ENST00000530292.2:c.251A>C	ENSP00000432885.1:p.Glu84Ala
ENST00000631044.2:c.*2591A>C	ENSP00000486730.1:n.*2591A>C
NM_001126131.1:c.3167A>C	NP_001119603.1:p.Glu1056Ala
NM_002693.2:c.3167A>C	NP_002684.1:p.Glu1056Ala
NM_001126131.2:c.3167A>C	NP_001119603.1:p.Glu1056Ala
NM_002693.3:c.3167A>C MANE Select	NP_002684.1:p.Glu1056Ala