Canonical Allele Identifier: CA10602298

Gene: POLG

Linked Data

• ClinVar Variation Id: 619445
• ClinVar RCV Id: RCV000758486
• dbSNP Id: rs1567192788
• MyVariant Identifiers: chr15:g.89873368C>G (hg19) ; chr15:g.89330137C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89330137C>G , CM000677.2:g.89330137C>G	GRCh38
NC_000015.9:g.89873368C>G , CM000677.1:g.89873368C>G	GRCh37
NC_000015.8:g.87674372C>G	NCBI36
NG_008218.1:g.9659G>C
NG_008218.2:g.9659G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.799G>C	ENSP00000516154.1:p.Val267Leu
ENST00000268124.11:c.799G>C MANE Select	ENSP00000268124.5:p.Val267Leu
ENST00000530292.3:c.400G>C	ENSP00000432885.2:p.Val134Leu
ENST00000635986.2:c.799G>C	ENSP00000490653.2:p.Val267Leu
ENST00000636774.1:c.799G>C	ENSP00000489799.1:p.Val267Leu
ENST00000666746.1:c.456G>C
ENST00000672071.1:n.997G>C
ENST00000268124.9:c.799G>C	ENSP00000268124.5:p.Val267Leu
ENST00000442287.6:c.799G>C	ENSP00000399851.2:p.Val267Leu
ENST00000631044.2:c.*182G>C	ENSP00000486730.1:n.*182G>C
NM_001126131.1:c.799G>C	NP_001119603.1:p.Val267Leu
NM_002693.2:c.799G>C	NP_002684.1:p.Val267Leu
NM_001126131.2:c.799G>C	NP_001119603.1:p.Val267Leu
NM_002693.3:c.799G>C MANE Select	NP_002684.1:p.Val267Leu