Canonical Allele Identifier: CA393761144

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89327040C>T , CM000677.2:g.89327040C>T	GRCh38
NC_000015.9:g.89870271C>T , CM000677.1:g.89870271C>T	GRCh37
NC_000015.8:g.87671275C>T	NCBI36
NG_008218.1:g.12756G>A
NG_008218.2:g.12756G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.1457G>A MANE Select	NP_002684.1:p.Trp486Ter
ENST00000268124.11:c.1457G>A MANE Select	ENSP00000268124.5:p.Trp486Ter
NM_001126131.1:c.1457G>A	NP_001119603.1:p.Trp486Ter
NM_001126131.2:c.1457G>A	NP_001119603.1:p.Trp486Ter
NM_002693.2:c.1457G>A	NP_002684.1:p.Trp486Ter
ENST00000268124.9:c.1457G>A	ENSP00000268124.5:p.Trp486Ter
ENST00000442287.6:c.1457G>A	ENSP00000399851.2:p.Trp486Ter
ENST00000530292.3:c.1058G>A	ENSP00000432885.2:p.Trp353Ter
ENST00000532363.2:n.418G>A
ENST00000631044.2:c.*840G>A	ENSP00000486730.1:n.*840G>A
ENST00000635986.2:c.1457G>A	ENSP00000490653.2:p.Trp486Ter
ENST00000636774.1:c.*24G>A	ENSP00000489799.1:n.*24G>A
ENST00000636937.2:c.1457G>A	ENSP00000516154.1:p.Trp486Ter
ENST00000637238.1:c.194G>A	ENSP00000490756.1:p.Trp65Ter
ENST00000637264.1:c.529G>A
ENST00000666746.1:c.1034G>A
ENST00000672071.1:n.1655G>A
ENST00000672923.2:n.1560G>A