Canonical Allele Identifier: CA393749898

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89861893C>A (hg19) ; chr15:g.89318662C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318662C>A , CM000677.2:g.89318662C>A	GRCh38
NC_000015.9:g.89861893C>A , CM000677.1:g.89861893C>A	GRCh37
NC_000015.8:g.87662897C>A	NCBI36
NG_008218.1:g.21134G>T
NG_011736.1:g.79700C>A , LRG_500:g.79700C>A
NG_008218.2:g.21134G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3361G>T	ENSP00000516154.1:p.Glu1121Ter
ENST00000268124.11:c.3361G>T MANE Select	ENSP00000268124.5:p.Glu1121Ter
ENST00000530292.3:c.2962G>T	ENSP00000432885.2:p.Glu988Ter
ENST00000635986.2:c.*431G>T	ENSP00000490653.2:n.*431G>T
ENST00000636774.1:c.*1928G>T	ENSP00000489799.1:n.*1928G>T
ENST00000637238.1:c.2170G>T	ENSP00000490756.1:n.2170G>T
ENST00000637264.1:c.2433G>T
ENST00000666746.1:c.2938G>T
ENST00000672071.1:n.3559G>T
ENST00000672695.1:n.538G>T
ENST00000672923.2:n.3361G>T
ENST00000268124.9:c.3361G>T	ENSP00000268124.5:p.Glu1121Ter
ENST00000442287.6:c.3361G>T	ENSP00000399851.2:p.Glu1121Ter
ENST00000530292.2:c.445G>T	ENSP00000432885.1:p.Glu149Ter
ENST00000631044.2:c.*2785G>T	ENSP00000486730.1:n.*2785G>T
NM_001126131.1:c.3361G>T	NP_001119603.1:p.Glu1121Ter
NM_002693.2:c.3361G>T	NP_002684.1:p.Glu1121Ter
NM_001126131.2:c.3361G>T	NP_001119603.1:p.Glu1121Ter
NM_002693.3:c.3361G>T MANE Select	NP_002684.1:p.Glu1121Ter