Canonical Allele Identifier: CA393751344

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89319275C>T , CM000677.2:g.89319275C>T	GRCh38
NC_000015.9:g.89862506C>T , CM000677.1:g.89862506C>T	GRCh37
NC_000015.8:g.87663510C>T	NCBI36
NG_008218.1:g.20521G>A
NG_008218.2:g.20521G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.3057G>A MANE Select	NP_002684.1:p.Trp1019Ter
ENST00000268124.11:c.3057G>A MANE Select	ENSP00000268124.5:p.Trp1019Ter
NM_001126131.1:c.3057G>A	NP_001119603.1:p.Trp1019Ter
NM_001126131.2:c.3057G>A	NP_001119603.1:p.Trp1019Ter
NM_002693.2:c.3057G>A	NP_002684.1:p.Trp1019Ter
ENST00000268124.9:c.3057G>A	ENSP00000268124.5:p.Trp1019Ter
ENST00000442287.6:c.3057G>A	ENSP00000399851.2:p.Trp1019Ter
ENST00000530292.2:c.141G>A	ENSP00000432885.1:p.Trp47Ter
ENST00000530292.3:c.2658G>A	ENSP00000432885.2:p.Trp886Ter
ENST00000530715.5:c.365G>A	ENSP00000431395.1:n.365G>A
ENST00000631044.2:c.*2481G>A	ENSP00000486730.1:n.*2481G>A
ENST00000635986.2:c.*127G>A	ENSP00000490653.2:n.*127G>A
ENST00000636530.1:n.30-13G>A
ENST00000636774.1:c.*1624G>A	ENSP00000489799.1:n.*1624G>A
ENST00000636937.2:c.3057G>A	ENSP00000516154.1:p.Trp1019Ter
ENST00000637238.1:c.1866G>A	ENSP00000490756.1:n.1866G>A
ENST00000637264.1:c.2129G>A
ENST00000666746.1:c.2634G>A
ENST00000672071.1:n.3255G>A
ENST00000672695.1:n.234G>A
ENST00000672923.2:n.3057G>A