Canonical Allele Identifier: CA10602217

Gene: POLG

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323847G>A , CM000677.2:g.89323847G>A	GRCh38
NC_000015.9:g.89867078G>A , CM000677.1:g.89867078G>A	GRCh37
NC_000015.8:g.87668082G>A	NCBI36
NG_008218.1:g.15949C>T
NG_008218.2:g.15949C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2125C>T	ENSP00000516154.1:p.Arg709Ter
ENST00000268124.11:c.2125C>T MANE Select	ENSP00000268124.5:p.Arg709Ter
ENST00000530292.3:c.1726C>T	ENSP00000432885.2:p.Arg576Ter
ENST00000635986.2:c.2125C>T	ENSP00000490653.2:p.Arg709Ter
ENST00000636774.1:c.*692C>T	ENSP00000489799.1:n.*692C>T
ENST00000637238.1:c.822C>T	ENSP00000490756.1:n.822C>T
ENST00000637264.1:c.1197C>T
ENST00000666746.1:c.1702C>T
ENST00000670281.1:c.445C>T	ENSP00000499709.1:p.Arg149Ter
ENST00000672071.1:n.2323C>T
ENST00000672923.2:n.2228C>T
ENST00000268124.9:c.2125C>T	ENSP00000268124.5:p.Arg709Ter
ENST00000442287.6:c.2125C>T	ENSP00000399851.2:p.Arg709Ter
ENST00000526314.2:c.507C>T
ENST00000526398.1:c.274C>T
ENST00000526573.1:n.211C>T
ENST00000532584.5:n.327C>T
ENST00000533857.1:n.240C>T
ENST00000631044.2:c.*1508C>T	ENSP00000486730.1:n.*1508C>T
NM_001126131.1:c.2125C>T	NP_001119603.1:p.Arg709Ter
NM_002693.2:c.2125C>T	NP_002684.1:p.Arg709Ter
NM_001126131.2:c.2125C>T	NP_001119603.1:p.Arg709Ter
NM_002693.3:c.2125C>T MANE Select	NP_002684.1:p.Arg709Ter