Canonical Allele Identifier: CA393771901

Gene: POLG POLGARF

Linked Data

• ClinVar Variation Id: 1525187
• ClinVar RCV Id: RCV002032272
• dbSNP Id: rs2141814897
• MyVariant Identifiers: chr15:g.89876570A>C (hg19) ; chr15:g.89333339A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89333339A>C , CM000677.2:g.89333339A>C	GRCh38
NC_000015.9:g.89876570A>C , CM000677.1:g.89876570A>C	GRCh37
NC_000015.8:g.87677574A>C	NCBI36
NG_008218.1:g.6457T>G
NG_008218.2:g.6457T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.416T>G (POLG)	ENSP00000516154.1:p.Phe139Cys
ENST00000706918.1:c.471T>G (POLGARF)	ENSP00000516626.1:p.Leu157=
ENST00000268124.11:c.416T>G (POLG) MANE Select	ENSP00000268124.5:p.Phe139Cys
ENST00000530292.3:c.17T>G (POLG)	ENSP00000432885.2:p.Phe6Cys
ENST00000635986.2:c.416T>G (POLG)	ENSP00000490653.2:p.Phe139Cys
ENST00000636774.1:c.416T>G (POLG)	ENSP00000489799.1:p.Phe139Cys
ENST00000650303.2:c.471T>G (POLG)	ENSP00000497242.2:p.Leu157=
ENST00000666746.1:c.73T>G (POLG)
ENST00000672071.1:n.614T>G (POLG)
ENST00000268124.9:c.416T>G (POLG)	ENSP00000268124.5:p.Phe139Cys
ENST00000442287.6:c.416T>G (POLG)	ENSP00000399851.2:p.Phe139Cys
ENST00000631044.2:c.416T>G (POLG)	ENSP00000486730.1:p.Phe139Cys
NM_001126131.1:c.416T>G (POLG)	NP_001119603.1:p.Phe139Cys
NM_002693.2:c.416T>G (POLG)	NP_002684.1:p.Phe139Cys
NM_001126131.2:c.416T>G (POLG)	NP_001119603.1:p.Phe139Cys
NM_002693.3:c.416T>G (POLG) MANE Select	NP_002684.1:p.Phe139Cys