Canonical Allele Identifier: CA2194542014

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318684A= , CM000677.2:g.89318684A=	GRCh38
NC_000015.9:g.89861915A= , CM000677.1:g.89861915A=	GRCh37
NC_000015.8:g.87662919A=	NCBI36
NG_008218.1:g.21112T=
NG_011736.1:g.79722A= , LRG_500:g.79722A=
NG_008218.2:g.21112T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3339T=	ENSP00000516154.1:p.Leu1113=
ENST00000268124.11:c.3339T= MANE Select	ENSP00000268124.5:p.Leu1113=
ENST00000530292.3:c.2940T=	ENSP00000432885.2:p.Leu980=
ENST00000635986.2:c.*409T=	ENSP00000490653.2:n.*409T=
ENST00000636774.1:c.*1906T=	ENSP00000489799.1:n.*1906T=
ENST00000637238.1:c.2148T=	ENSP00000490756.1:n.2148T=
ENST00000637264.1:c.2411T=
ENST00000666746.1:c.2916T=
ENST00000672071.1:n.3537T=
ENST00000672695.1:n.516T=
ENST00000672923.2:n.3339T=
ENST00000268124.9:c.3339T=	ENSP00000268124.5:p.Leu1113=
ENST00000442287.6:c.3339T=	ENSP00000399851.2:p.Leu1113=
ENST00000530292.2:c.423T=	ENSP00000432885.1:p.Leu141=
ENST00000631044.2:c.*2763T=	ENSP00000486730.1:n.*2763T=
NM_001126131.1:c.3339T=	NP_001119603.1:p.Leu1113=
NM_002693.2:c.3339T=	NP_002684.1:p.Leu1113=
NM_001126131.2:c.3339T=	NP_001119603.1:p.Leu1113=
NM_002693.3:c.3339T= MANE Select	NP_002684.1:p.Leu1113=