Canonical Allele Identifier: CA2194550502
Community Standard Title: NM_002693.3(POLG):c.1760C= (p.Pro587=)
Gene: POLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89325639G= , CM000677.2:g.89325639G= GRCh38
NC_000015.9:g.89868870G= , CM000677.1:g.89868870G= GRCh37
NC_000015.8:g.87669874G= NCBI36
NG_008218.1:g.14157C=
NG_008218.2:g.14157C=

Transcript Alleles

HGVS Amino-acid Change
NM_002693.3:c.1760C= MANE Select NP_002684.1:p.Pro587=
ENST00000268124.11:c.1760C= MANE Select ENSP00000268124.5:p.Pro587=
NM_001126131.1:c.1760C= NP_001119603.1:p.Pro587=
NM_001126131.2:c.1760C= NP_001119603.1:p.Pro587=
NM_002693.2:c.1760C= NP_002684.1:p.Pro587=
ENST00000268124.9:c.1760C= ENSP00000268124.5:p.Pro587=
ENST00000442287.6:c.1760C= ENSP00000399851.2:p.Pro587=
ENST00000526314.2:c.142C=
ENST00000530292.3:c.1361C= ENSP00000432885.2:p.Pro454=
ENST00000631044.2:c.*1143C= ENSP00000486730.1:n.*1143C=
ENST00000635986.2:c.1760C= ENSP00000490653.2:p.Pro587=
ENST00000636774.1:c.*327C= ENSP00000489799.1:n.*327C=
ENST00000636937.2:c.1760C= ENSP00000516154.1:p.Pro587=
ENST00000637238.1:c.497C= ENSP00000490756.1:p.Pro166=
ENST00000637264.1:c.832C=
ENST00000666746.1:c.1337C=
ENST00000670281.1:c.80C= ENSP00000499709.1:p.Pro27=
ENST00000672071.1:n.1958C=
ENST00000672923.2:n.1863C=