Canonical Allele Identifier: CA393750577

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89862212G>C (hg19) ; chr15:g.89318981G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318981G>C , CM000677.2:g.89318981G>C	GRCh38
NC_000015.9:g.89862212G>C , CM000677.1:g.89862212G>C	GRCh37
NC_000015.8:g.87663216G>C	NCBI36
NG_008218.1:g.20815C>G
NG_011736.1:g.80019G>C , LRG_500:g.80019G>C
NG_008218.2:g.20815C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3223C>G	ENSP00000516154.1:p.Leu1075Val
ENST00000268124.11:c.3223C>G MANE Select	ENSP00000268124.5:p.Leu1075Val
ENST00000530292.3:c.2824C>G	ENSP00000432885.2:p.Leu942Val
ENST00000635986.2:c.*293C>G	ENSP00000490653.2:n.*293C>G
ENST00000636774.1:c.*1790C>G	ENSP00000489799.1:n.*1790C>G
ENST00000637238.1:c.2032C>G	ENSP00000490756.1:n.2032C>G
ENST00000637264.1:c.2295C>G
ENST00000666746.1:c.2800C>G
ENST00000672071.1:n.3421C>G
ENST00000672695.1:n.400C>G
ENST00000672923.2:n.3223C>G
ENST00000268124.9:c.3223C>G	ENSP00000268124.5:p.Leu1075Val
ENST00000442287.6:c.3223C>G	ENSP00000399851.2:p.Leu1075Val
ENST00000530292.2:c.307C>G	ENSP00000432885.1:p.Leu103Val
ENST00000631044.2:c.*2647C>G	ENSP00000486730.1:n.*2647C>G
NM_001126131.1:c.3223C>G	NP_001119603.1:p.Leu1075Val
NM_002693.2:c.3223C>G	NP_002684.1:p.Leu1075Val
NM_001126131.2:c.3223C>G	NP_001119603.1:p.Leu1075Val
NM_002693.3:c.3223C>G MANE Select	NP_002684.1:p.Leu1075Val