Canonical Allele Identifier: CA492289231

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89868737C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325506C>A , CM000677.2:g.89325506C>A	GRCh38
NC_000015.9:g.89868737C>A , CM000677.1:g.89868737C>A	GRCh37
NC_000015.8:g.87669741C>A	NCBI36
NG_008218.1:g.14290G>T
NG_008218.2:g.14290G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1893G>T	ENSP00000516154.1:p.Leu631=
ENST00000268124.11:c.1893G>T MANE Select	ENSP00000268124.5:p.Leu631=
ENST00000530292.3:c.1494G>T	ENSP00000432885.2:p.Leu498=
ENST00000635986.2:c.1893G>T	ENSP00000490653.2:p.Leu631=
ENST00000636774.1:c.*460G>T	ENSP00000489799.1:n.*460G>T
ENST00000637238.1:c.630G>T	ENSP00000490756.1:p.Leu210=
ENST00000637264.1:c.965G>T
ENST00000666746.1:c.1470G>T
ENST00000670281.1:c.213G>T	ENSP00000499709.1:p.Leu71=
ENST00000672071.1:n.2091G>T
ENST00000672923.2:n.1996G>T
ENST00000268124.9:c.1893G>T	ENSP00000268124.5:p.Leu631=
ENST00000442287.6:c.1893G>T	ENSP00000399851.2:p.Leu631=
ENST00000526314.2:c.275G>T
ENST00000526398.1:c.82G>T
ENST00000532584.5:n.95G>T
ENST00000631044.2:c.*1276G>T	ENSP00000486730.1:n.*1276G>T
NM_001126131.1:c.1893G>T	NP_001119603.1:p.Leu631=
NM_002693.2:c.1893G>T	NP_002684.1:p.Leu631=
NM_001126131.2:c.1893G>T	NP_001119603.1:p.Leu631=
NM_002693.3:c.1893G>T MANE Select	NP_002684.1:p.Leu631=