Canonical Allele Identifier: CA2580573361

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.[89325639G>A;89330184G>A] , CM000677.2:g.[89325639G>A;89330184G>A]	GRCh38
NC_000015.9:g.[89868870G>A;89873415G>A] , CM000677.1:g.[89868870G>A;89873415G>A]	GRCh37
NC_000015.8:g.[87669874G>A;87674419G>A]	NCBI36
NG_008218.1:g.[9612C>T;14157C>T]
NG_008218.2:g.[9612C>T;14157C>T]

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.[752C>T;1760C>T]	ENSP00000516154.1:p.[Thr251Ile;Pro587Leu]
ENST00000268124.11:c.[752C>T;1760C>T] MANE Select	ENSP00000268124.5:p.[Thr251Ile;Pro587Leu]
ENST00000530292.3:c.[353C>T;1361C>T]	ENSP00000432885.2:p.[Thr118Ile;Pro454Leu]
ENST00000635986.2:c.[752C>T;1760C>T]	ENSP00000490653.2:p.[Thr251Ile;Pro587Leu]
ENST00000636774.1:c.[752C>T;*327C>T]	ENSP00000489799.1:[p.Thr251Ile;n.*327C>T]
ENST00000666746.1:c.[409C>T;1337C>T]
ENST00000672071.1:n.[950C>T;1958C>T]
ENST00000268124.9:c.[752C>T;1760C>T]	ENSP00000268124.5:p.[Thr251Ile;Pro587Leu]
ENST00000442287.6:c.[752C>T;1760C>T]	ENSP00000399851.2:p.[Thr251Ile;Pro587Leu]
ENST00000631044.2:c.[*135C>T;*1143C>T]	ENSP00000486730.1:n.[*135C>T;*1143C>T]
NM_001126131.1:c.[752C>T;1760C>T]	NP_001119603.1:p.[Thr251Ile;Pro587Leu]
NM_002693.2:c.[752C>T;1760C>T]	NP_002684.1:p.[Thr251Ile;Pro587Leu]
NM_001126131.2:c.[752C>T;1760C>T]	NP_001119603.1:p.[Thr251Ile;Pro587Leu]
NM_002693.3:c.[752C>T;1760C>T] MANE Select	NP_002684.1:p.[Thr251Ile;Pro587Leu]