Canonical Allele Identifier: CA2194558318

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89327317A= , CM000677.2:g.89327317A=	GRCh38
NC_000015.9:g.89870548A= , CM000677.1:g.89870548A=	GRCh37
NC_000015.8:g.87671552A=	NCBI36
NG_008218.1:g.12479T=
NG_008218.2:g.12479T=

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.1283T= MANE Select	NP_002684.1:p.Leu428=
ENST00000268124.11:c.1283T= MANE Select	ENSP00000268124.5:p.Leu428=
NM_001126131.1:c.1283T=	NP_001119603.1:p.Leu428=
NM_001126131.2:c.1283T=	NP_001119603.1:p.Leu428=
NM_002693.2:c.1283T=	NP_002684.1:p.Leu428=
ENST00000268124.9:c.1283T=	ENSP00000268124.5:p.Leu428=
ENST00000442287.6:c.1283T=	ENSP00000399851.2:p.Leu428=
ENST00000530292.3:c.884T=	ENSP00000432885.2:p.Leu295=
ENST00000532363.2:n.141T=
ENST00000631044.2:c.*666T=	ENSP00000486730.1:n.*666T=
ENST00000635986.2:c.1283T=	ENSP00000490653.2:p.Leu428=
ENST00000636774.1:c.1283T=	ENSP00000489799.1:p.Leu428=
ENST00000636937.2:c.1283T=	ENSP00000516154.1:p.Leu428=
ENST00000637238.1:c.20T=	ENSP00000490756.1:p.Leu7=
ENST00000637264.1:c.355T=
ENST00000666746.1:c.860T=
ENST00000672071.1:n.1481T=
ENST00000672923.2:n.1386T=