Canonical Allele Identifier: CA393758957

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89868694C>G (hg19) ; chr15:g.89325463C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325463C>G , CM000677.2:g.89325463C>G	GRCh38
NC_000015.9:g.89868694C>G , CM000677.1:g.89868694C>G	GRCh37
NC_000015.8:g.87669698C>G	NCBI36
NG_008218.1:g.14333G>C
NG_008218.2:g.14333G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1936G>C	ENSP00000516154.1:p.Val646Leu
ENST00000268124.11:c.1936G>C MANE Select	ENSP00000268124.5:p.Val646Leu
ENST00000530292.3:c.1537G>C	ENSP00000432885.2:p.Val513Leu
ENST00000635986.2:c.1936G>C	ENSP00000490653.2:p.Val646Leu
ENST00000636774.1:c.*503G>C	ENSP00000489799.1:n.*503G>C
ENST00000637238.1:c.646+27G>C	ENSP00000490756.1:n.646+27G>C
ENST00000637264.1:c.1008G>C
ENST00000666746.1:c.1513G>C
ENST00000670281.1:c.256G>C	ENSP00000499709.1:p.Val86Leu
ENST00000672071.1:n.2134G>C
ENST00000672923.2:n.2039G>C
ENST00000268124.9:c.1936G>C	ENSP00000268124.5:p.Val646Leu
ENST00000442287.6:c.1936G>C	ENSP00000399851.2:p.Val646Leu
ENST00000526314.2:c.318G>C
ENST00000526398.1:c.125G>C
ENST00000526573.1:n.22G>C
ENST00000532584.5:n.138G>C
ENST00000631044.2:c.*1319G>C	ENSP00000486730.1:n.*1319G>C
NM_001126131.1:c.1936G>C	NP_001119603.1:p.Val646Leu
NM_002693.2:c.1936G>C	NP_002684.1:p.Val646Leu
NM_001126131.2:c.1936G>C	NP_001119603.1:p.Val646Leu
NM_002693.3:c.1936G>C MANE Select	NP_002684.1:p.Val646Leu