Canonical Allele Identifier: CA7724198

Gene: POLG

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318962C>T , CM000677.2:g.89318962C>T	GRCh38
NC_000015.9:g.89862193C>T , CM000677.1:g.89862193C>T	GRCh37
NC_000015.8:g.87663197C>T	NCBI36
NG_008218.1:g.20834G>A
NG_011736.1:g.80000C>T , LRG_500:g.80000C>T
NG_008218.2:g.20834G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3242G>A	ENSP00000516154.1:p.Arg1081Gln
ENST00000268124.11:c.3242G>A MANE Select	ENSP00000268124.5:p.Arg1081Gln
ENST00000530292.3:c.2843G>A	ENSP00000432885.2:p.Arg948Gln
ENST00000635986.2:c.*312G>A	ENSP00000490653.2:n.*312G>A
ENST00000636774.1:c.*1809G>A	ENSP00000489799.1:n.*1809G>A
ENST00000637238.1:c.2051G>A	ENSP00000490756.1:n.2051G>A
ENST00000637264.1:c.2314G>A
ENST00000666746.1:c.2819G>A
ENST00000672071.1:n.3440G>A
ENST00000672695.1:n.419G>A
ENST00000672923.2:n.3242G>A
ENST00000268124.9:c.3242G>A	ENSP00000268124.5:p.Arg1081Gln
ENST00000442287.6:c.3242G>A	ENSP00000399851.2:p.Arg1081Gln
ENST00000530292.2:c.326G>A	ENSP00000432885.1:p.Arg109Gln
ENST00000631044.2:c.*2666G>A	ENSP00000486730.1:n.*2666G>A
NM_001126131.1:c.3242G>A	NP_001119603.1:p.Arg1081Gln
NM_002693.2:c.3242G>A	NP_002684.1:p.Arg1081Gln
NM_001126131.2:c.3242G>A	NP_001119603.1:p.Arg1081Gln
NM_002693.3:c.3242G>A MANE Select	NP_002684.1:p.Arg1081Gln