Canonical Allele Identifier: CA492076240

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89866650G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323419G>A , CM000677.2:g.89323419G>A	GRCh38
NC_000015.9:g.89866650G>A , CM000677.1:g.89866650G>A	GRCh37
NC_000015.8:g.87667654G>A	NCBI36
NG_008218.1:g.16377C>T
NG_008218.2:g.16377C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2250C>T	ENSP00000516154.1:p.Phe750=
ENST00000268124.11:c.2250C>T MANE Select	ENSP00000268124.5:p.Phe750=
ENST00000530292.3:c.1851C>T	ENSP00000432885.2:p.Phe617=
ENST00000635986.2:c.2250C>T	ENSP00000490653.2:p.Phe750=
ENST00000636774.1:c.*817C>T	ENSP00000489799.1:n.*817C>T
ENST00000637238.1:c.947C>T	ENSP00000490756.1:n.947C>T
ENST00000637264.1:c.1322C>T
ENST00000666746.1:c.1827C>T
ENST00000670281.1:c.570C>T	ENSP00000499709.1:p.Phe190=
ENST00000672071.1:n.2448C>T
ENST00000672923.2:n.2353C>T
ENST00000268124.9:c.2250C>T	ENSP00000268124.5:p.Phe750=
ENST00000442287.6:c.2250C>T	ENSP00000399851.2:p.Phe750=
ENST00000526314.2:c.539+396C>T
ENST00000526398.1:c.399C>T
ENST00000528881.2:c.19C>T
ENST00000530715.5:c.9C>T	ENSP00000431395.1:p.Phe3=
ENST00000532584.5:n.452C>T
ENST00000631044.2:c.*1674C>T	ENSP00000486730.1:n.*1674C>T
NM_001126131.1:c.2250C>T	NP_001119603.1:p.Phe750=
NM_002693.2:c.2250C>T	NP_002684.1:p.Phe750=
NM_001126131.2:c.2250C>T	NP_001119603.1:p.Phe750=
NM_002693.3:c.2250C>T MANE Select	NP_002684.1:p.Phe750=