Canonical Allele Identifier: CA492289290

Gene: POLG

Linked Data

• ClinVar Variation Id: 1565141
• ClinVar RCV Id: RCV002218171
• dbSNP Id: rs2152065878
• MyVariant Identifiers: chr15:g.89868779A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325548A>G , CM000677.2:g.89325548A>G	GRCh38
NC_000015.9:g.89868779A>G , CM000677.1:g.89868779A>G	GRCh37
NC_000015.8:g.87669783A>G	NCBI36
NG_008218.1:g.14248T>C
NG_008218.2:g.14248T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.1851T>C	ENSP00000516154.1:p.Arg617=
ENST00000268124.11:c.1851T>C MANE Select	ENSP00000268124.5:p.Arg617=
ENST00000530292.3:c.1452T>C	ENSP00000432885.2:p.Arg484=
ENST00000635986.2:c.1851T>C	ENSP00000490653.2:p.Arg617=
ENST00000636774.1:c.*418T>C	ENSP00000489799.1:n.*418T>C
ENST00000637238.1:c.588T>C	ENSP00000490756.1:p.Arg196=
ENST00000637264.1:c.923T>C
ENST00000666746.1:c.1428T>C
ENST00000670281.1:c.171T>C	ENSP00000499709.1:p.Arg57=
ENST00000672071.1:n.2049T>C
ENST00000672923.2:n.1954T>C
ENST00000268124.9:c.1851T>C	ENSP00000268124.5:p.Arg617=
ENST00000442287.6:c.1851T>C	ENSP00000399851.2:p.Arg617=
ENST00000526314.2:c.233T>C
ENST00000526398.1:c.40T>C
ENST00000532584.5:n.53T>C
ENST00000631044.2:c.*1234T>C	ENSP00000486730.1:n.*1234T>C
NM_001126131.1:c.1851T>C	NP_001119603.1:p.Arg617=
NM_002693.2:c.1851T>C	NP_002684.1:p.Arg617=
NM_001126131.2:c.1851T>C	NP_001119603.1:p.Arg617=
NM_002693.3:c.1851T>C MANE Select	NP_002684.1:p.Arg617=