Canonical Allele Identifier: CA492289782
Gene: POLG HGNC NCBI

Linked Data

MyVariant Identifiers: chr15:g.89870565C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.89327334C>G , CM000677.2:g.89327334C>G GRCh38
NC_000015.9:g.89870565C>G , CM000677.1:g.89870565C>G GRCh37
NC_000015.8:g.87671569C>G NCBI36
NG_008218.1:g.12462G>C
NG_008218.2:g.12462G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000636937.2:c.1266G>C ENSP00000516154.1:p.Val422=
ENST00000268124.11:c.1266G>C MANE Select ENSP00000268124.5:p.Val422=
ENST00000530292.3:c.867G>C ENSP00000432885.2:p.Val289=
ENST00000635986.2:c.1266G>C ENSP00000490653.2:p.Val422=
ENST00000636774.1:c.1266G>C ENSP00000489799.1:p.Val422=
ENST00000637238.1:c.3G>C ENSP00000490756.1:p.Val1=
ENST00000637264.1:c.338G>C
ENST00000666746.1:c.843G>C
ENST00000672071.1:n.1464G>C
ENST00000672923.2:n.1369G>C
ENST00000268124.9:c.1266G>C ENSP00000268124.5:p.Val422=
ENST00000442287.6:c.1266G>C ENSP00000399851.2:p.Val422=
ENST00000532363.2:n.124G>C
ENST00000631044.2:c.*649G>C ENSP00000486730.1:n.*649G>C
NM_001126131.1:c.1266G>C NP_001119603.1:p.Val422=
NM_002693.2:c.1266G>C NP_002684.1:p.Val422=
NM_001126131.2:c.1266G>C NP_001119603.1:p.Val422=
NM_002693.3:c.1266G>C MANE Select NP_002684.1:p.Val422=