Canonical Allele Identifier: CA2194541972

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318672C= , CM000677.2:g.89318672C=	GRCh38
NC_000015.9:g.89861903C= , CM000677.1:g.89861903C=	GRCh37
NC_000015.8:g.87662907C=	NCBI36
NG_008218.1:g.21124G=
NG_011736.1:g.79710C= , LRG_500:g.79710C=
NG_008218.2:g.21124G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3351G=	ENSP00000516154.1:p.Lys1117=
ENST00000268124.11:c.3351G= MANE Select	ENSP00000268124.5:p.Lys1117=
ENST00000530292.3:c.2952G=	ENSP00000432885.2:p.Lys984=
ENST00000635986.2:c.*421G=	ENSP00000490653.2:n.*421G=
ENST00000636774.1:c.*1918G=	ENSP00000489799.1:n.*1918G=
ENST00000637238.1:c.2160G=	ENSP00000490756.1:n.2160G=
ENST00000637264.1:c.2423G=
ENST00000666746.1:c.2928G=
ENST00000672071.1:n.3549G=
ENST00000672695.1:n.528G=
ENST00000672923.2:n.3351G=
ENST00000268124.9:c.3351G=	ENSP00000268124.5:p.Lys1117=
ENST00000442287.6:c.3351G=	ENSP00000399851.2:p.Lys1117=
ENST00000530292.2:c.435G=	ENSP00000432885.1:p.Lys145=
ENST00000631044.2:c.*2775G=	ENSP00000486730.1:n.*2775G=
NM_001126131.1:c.3351G=	NP_001119603.1:p.Lys1117=
NM_002693.2:c.3351G=	NP_002684.1:p.Lys1117=
NM_001126131.2:c.3351G=	NP_001119603.1:p.Lys1117=
NM_002693.3:c.3351G= MANE Select	NP_002684.1:p.Lys1117=