Canonical Allele Identifier: CA393760941

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89870236T>G (hg19) ; chr15:g.89327005T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89327005T>G , CM000677.2:g.89327005T>G	GRCh38
NC_000015.9:g.89870236T>G , CM000677.1:g.89870236T>G	GRCh37
NC_000015.8:g.87671240T>G	NCBI36
NG_008218.1:g.12791A>C
NG_008218.2:g.12791A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1492A>C	ENSP00000516154.1:p.Lys498Gln
ENST00000268124.11:c.1492A>C MANE Select	ENSP00000268124.5:p.Lys498Gln
ENST00000530292.3:c.1093A>C	ENSP00000432885.2:p.Lys365Gln
ENST00000635986.2:c.1492A>C	ENSP00000490653.2:p.Lys498Gln
ENST00000636774.1:c.*59A>C	ENSP00000489799.1:n.*59A>C
ENST00000637238.1:c.229A>C	ENSP00000490756.1:p.Lys77Gln
ENST00000637264.1:c.564A>C
ENST00000666746.1:c.1069A>C
ENST00000672071.1:n.1690A>C
ENST00000672923.2:n.1595A>C
ENST00000268124.9:c.1492A>C	ENSP00000268124.5:p.Lys498Gln
ENST00000442287.6:c.1492A>C	ENSP00000399851.2:p.Lys498Gln
ENST00000631044.2:c.*875A>C	ENSP00000486730.1:n.*875A>C
NM_001126131.1:c.1492A>C	NP_001119603.1:p.Lys498Gln
NM_002693.2:c.1492A>C	NP_002684.1:p.Lys498Gln
NM_001126131.2:c.1492A>C	NP_001119603.1:p.Lys498Gln
NM_002693.3:c.1492A>C MANE Select	NP_002684.1:p.Lys498Gln