Canonical Allele Identifier: CA2194542041

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318690G= , CM000677.2:g.89318690G=	GRCh38
NC_000015.9:g.89861921G= , CM000677.1:g.89861921G=	GRCh37
NC_000015.8:g.87662925G=	NCBI36
NG_008218.1:g.21106C=
NG_011736.1:g.79728G= , LRG_500:g.79728G=
NG_008218.2:g.21106C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3333C=	ENSP00000516154.1:p.Leu1111=
ENST00000268124.11:c.3333C= MANE Select	ENSP00000268124.5:p.Leu1111=
ENST00000530292.3:c.2934C=	ENSP00000432885.2:p.Leu978=
ENST00000635986.2:c.*403C=	ENSP00000490653.2:n.*403C=
ENST00000636774.1:c.*1900C=	ENSP00000489799.1:n.*1900C=
ENST00000637238.1:c.2142C=	ENSP00000490756.1:n.2142C=
ENST00000637264.1:c.2405C=
ENST00000666746.1:c.2910C=
ENST00000672071.1:n.3531C=
ENST00000672695.1:n.510C=
ENST00000672923.2:n.3333C=
ENST00000268124.9:c.3333C=	ENSP00000268124.5:p.Leu1111=
ENST00000442287.6:c.3333C=	ENSP00000399851.2:p.Leu1111=
ENST00000530292.2:c.417C=	ENSP00000432885.1:p.Leu139=
ENST00000631044.2:c.*2757C=	ENSP00000486730.1:n.*2757C=
NM_001126131.1:c.3333C=	NP_001119603.1:p.Leu1111=
NM_002693.2:c.3333C=	NP_002684.1:p.Leu1111=
NM_001126131.2:c.3333C=	NP_001119603.1:p.Leu1111=
NM_002693.3:c.3333C= MANE Select	NP_002684.1:p.Leu1111=