Canonical Allele Identifier: CA2194539523

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317522T= , CM000677.2:g.89317522T=	GRCh38
NC_000015.9:g.89860753T= , CM000677.1:g.89860753T=	GRCh37
NC_000015.8:g.87661757T=	NCBI36
NG_008218.1:g.22274A=
NG_011736.1:g.78560T= , LRG_500:g.78560T=
NG_008218.2:g.22274A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3497A=	ENSP00000516154.1:p.Tyr1166=
ENST00000268124.11:c.3497A= MANE Select	ENSP00000268124.5:p.Tyr1166=
ENST00000530292.3:c.3197A=	ENSP00000432885.2:n.3197A=
ENST00000635986.2:c.*567A=	ENSP00000490653.2:n.*567A=
ENST00000636774.1:c.*2101A=	ENSP00000489799.1:n.*2101A=
ENST00000637042.1:n.72-51A=
ENST00000637238.1:c.2405A=	ENSP00000490756.1:n.2405A=
ENST00000637264.1:c.2555-46A=
ENST00000666746.1:c.3074A=
ENST00000672071.1:n.4699A=
ENST00000672695.1:n.1276A=
ENST00000672923.2:n.3497A=
ENST00000268124.9:c.3497A=	ENSP00000268124.5:p.Tyr1166=
ENST00000442287.6:c.3497A=	ENSP00000399851.2:p.Tyr1166=
ENST00000526671.1:n.307A=
ENST00000530292.2:c.680A=	ENSP00000432885.1:n.680A=
ENST00000631044.2:c.*2921A=	ENSP00000486730.1:n.*2921A=
NM_001126131.1:c.3497A=	NP_001119603.1:p.Tyr1166=
NM_002693.2:c.3497A=	NP_002684.1:p.Tyr1166=
NM_001126131.2:c.3497A=	NP_001119603.1:p.Tyr1166=
NM_002693.3:c.3497A= MANE Select	NP_002684.1:p.Tyr1166=