Canonical Allele Identifier: CA393750120

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318719G>A , CM000677.2:g.89318719G>A	GRCh38
NC_000015.9:g.89861950G>A , CM000677.1:g.89861950G>A	GRCh37
NC_000015.8:g.87662954G>A	NCBI36
NG_008218.1:g.21077C>T
NG_011736.1:g.79757G>A , LRG_500:g.79757G>A
NG_008218.2:g.21077C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.3304C>T MANE Select	NP_002684.1:p.Gln1102Ter
ENST00000268124.11:c.3304C>T MANE Select	ENSP00000268124.5:p.Gln1102Ter
NM_001126131.1:c.3304C>T	NP_001119603.1:p.Gln1102Ter
NM_001126131.2:c.3304C>T	NP_001119603.1:p.Gln1102Ter
NM_002693.2:c.3304C>T	NP_002684.1:p.Gln1102Ter
ENST00000268124.9:c.3304C>T	ENSP00000268124.5:p.Gln1102Ter
ENST00000442287.6:c.3304C>T	ENSP00000399851.2:p.Gln1102Ter
ENST00000530292.2:c.388C>T	ENSP00000432885.1:p.Gln130Ter
ENST00000530292.3:c.2905C>T	ENSP00000432885.2:p.Gln969Ter
ENST00000631044.2:c.*2728C>T	ENSP00000486730.1:n.*2728C>T
ENST00000635986.2:c.*374C>T	ENSP00000490653.2:n.*374C>T
ENST00000636774.1:c.*1871C>T	ENSP00000489799.1:n.*1871C>T
ENST00000636937.2:c.3304C>T	ENSP00000516154.1:p.Gln1102Ter
ENST00000637238.1:c.2113C>T	ENSP00000490756.1:n.2113C>T
ENST00000637264.1:c.2376C>T
ENST00000666746.1:c.2881C>T
ENST00000672071.1:n.3502C>T
ENST00000672695.1:n.481C>T
ENST00000672923.2:n.3304C>T