Canonical Allele Identifier: CA393766122

Gene: POLG

Linked Data

• ClinVar Variation Id: 2766372
• ClinVar RCV Id: RCV003515922
• MyVariant Identifiers: chr15:g.89872325A>C (hg19) ; chr15:g.89329094A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89329094A>C , CM000677.2:g.89329094A>C	GRCh38
NC_000015.9:g.89872325A>C , CM000677.1:g.89872325A>C	GRCh37
NC_000015.8:g.87673329A>C	NCBI36
NG_008218.1:g.10702T>G
NG_008218.2:g.10702T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.872T>G	ENSP00000516154.1:p.Phe291Cys
ENST00000268124.11:c.872T>G MANE Select	ENSP00000268124.5:p.Phe291Cys
ENST00000530292.3:c.473T>G	ENSP00000432885.2:p.Phe158Cys
ENST00000635986.2:c.872T>G	ENSP00000490653.2:p.Phe291Cys
ENST00000636774.1:c.872T>G	ENSP00000489799.1:p.Phe291Cys
ENST00000666746.1:c.529T>G
ENST00000672071.1:n.1070T>G
ENST00000268124.9:c.872T>G	ENSP00000268124.5:p.Phe291Cys
ENST00000442287.6:c.872T>G	ENSP00000399851.2:p.Phe291Cys
ENST00000631044.2:c.*255T>G	ENSP00000486730.1:n.*255T>G
NM_001126131.1:c.872T>G	NP_001119603.1:p.Phe291Cys
NM_002693.2:c.872T>G	NP_002684.1:p.Phe291Cys
NM_001126131.2:c.872T>G	NP_001119603.1:p.Phe291Cys
NM_002693.3:c.872T>G MANE Select	NP_002684.1:p.Phe291Cys