Canonical Allele Identifier: CA2194539493

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317519T= , CM000677.2:g.89317519T=	GRCh38
NC_000015.9:g.89860750T= , CM000677.1:g.89860750T=	GRCh37
NC_000015.8:g.87661754T=	NCBI36
NG_008218.1:g.22277A=
NG_011736.1:g.78557T= , LRG_500:g.78557T=
NG_008218.2:g.22277A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3500A=	ENSP00000516154.1:p.Lys1167=
ENST00000268124.11:c.3500A= MANE Select	ENSP00000268124.5:p.Lys1167=
ENST00000530292.3:c.3200A=	ENSP00000432885.2:n.3200A=
ENST00000635986.2:c.*570A=	ENSP00000490653.2:n.*570A=
ENST00000636774.1:c.*2104A=	ENSP00000489799.1:n.*2104A=
ENST00000637042.1:n.72-48A=
ENST00000637238.1:c.2408A=	ENSP00000490756.1:n.2408A=
ENST00000637264.1:c.2555-43A=
ENST00000666746.1:c.3077A=
ENST00000672071.1:n.4702A=
ENST00000672695.1:n.1279A=
ENST00000672923.2:n.3500A=
ENST00000268124.9:c.3500A=	ENSP00000268124.5:p.Lys1167=
ENST00000442287.6:c.3500A=	ENSP00000399851.2:p.Lys1167=
ENST00000526671.1:n.310A=
ENST00000530292.2:c.683A=	ENSP00000432885.1:n.683A=
ENST00000631044.2:c.*2924A=	ENSP00000486730.1:n.*2924A=
NM_001126131.1:c.3500A=	NP_001119603.1:p.Lys1167=
NM_002693.2:c.3500A=	NP_002684.1:p.Lys1167=
NM_001126131.2:c.3500A=	NP_001119603.1:p.Lys1167=
NM_002693.3:c.3500A= MANE Select	NP_002684.1:p.Lys1167=