Canonical Allele Identifier: CA10602219

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323829G>A , CM000677.2:g.89323829G>A	GRCh38
NC_000015.9:g.89867060G>A , CM000677.1:g.89867060G>A	GRCh37
NC_000015.8:g.87668064G>A	NCBI36
NG_008218.1:g.15967C>T
NG_008218.2:g.15967C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.2143C>T MANE Select	NP_002684.1:p.Gln715Ter
ENST00000268124.11:c.2143C>T MANE Select	ENSP00000268124.5:p.Gln715Ter
NM_001126131.1:c.2143C>T	NP_001119603.1:p.Gln715Ter
NM_001126131.2:c.2143C>T	NP_001119603.1:p.Gln715Ter
NM_002693.2:c.2143C>T	NP_002684.1:p.Gln715Ter
ENST00000268124.9:c.2143C>T	ENSP00000268124.5:p.Gln715Ter
ENST00000442287.6:c.2143C>T	ENSP00000399851.2:p.Gln715Ter
ENST00000526314.2:c.525C>T
ENST00000526398.1:c.292C>T
ENST00000526573.1:n.229C>T
ENST00000530292.3:c.1744C>T	ENSP00000432885.2:p.Gln582Ter
ENST00000532584.5:n.345C>T
ENST00000533857.1:n.258C>T
ENST00000631044.2:c.*1526C>T	ENSP00000486730.1:n.*1526C>T
ENST00000635986.2:c.2143C>T	ENSP00000490653.2:p.Gln715Ter
ENST00000636774.1:c.*710C>T	ENSP00000489799.1:n.*710C>T
ENST00000636937.2:c.2143C>T	ENSP00000516154.1:p.Gln715Ter
ENST00000637238.1:c.840C>T	ENSP00000490756.1:n.840C>T
ENST00000637264.1:c.1215C>T
ENST00000666746.1:c.1720C>T
ENST00000670281.1:c.463C>T	ENSP00000499709.1:p.Gln155Ter
ENST00000672071.1:n.2341C>T
ENST00000672923.2:n.2246C>T