Canonical Allele Identifier: CA393758969

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89868697C>G (hg19) ; chr15:g.89325466C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325466C>G , CM000677.2:g.89325466C>G	GRCh38
NC_000015.9:g.89868697C>G , CM000677.1:g.89868697C>G	GRCh37
NC_000015.8:g.87669701C>G	NCBI36
NG_008218.1:g.14330G>C
NG_008218.2:g.14330G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1933G>C	ENSP00000516154.1:p.Val645Leu
ENST00000268124.11:c.1933G>C MANE Select	ENSP00000268124.5:p.Val645Leu
ENST00000530292.3:c.1534G>C	ENSP00000432885.2:p.Val512Leu
ENST00000635986.2:c.1933G>C	ENSP00000490653.2:p.Val645Leu
ENST00000636774.1:c.*500G>C	ENSP00000489799.1:n.*500G>C
ENST00000637238.1:c.646+24G>C	ENSP00000490756.1:n.646+24G>C
ENST00000637264.1:c.1005G>C
ENST00000666746.1:c.1510G>C
ENST00000670281.1:c.253G>C	ENSP00000499709.1:p.Val85Leu
ENST00000672071.1:n.2131G>C
ENST00000672923.2:n.2036G>C
ENST00000268124.9:c.1933G>C	ENSP00000268124.5:p.Val645Leu
ENST00000442287.6:c.1933G>C	ENSP00000399851.2:p.Val645Leu
ENST00000526314.2:c.315G>C
ENST00000526398.1:c.122G>C
ENST00000526573.1:n.19G>C
ENST00000532584.5:n.135G>C
ENST00000631044.2:c.*1316G>C	ENSP00000486730.1:n.*1316G>C
NM_001126131.1:c.1933G>C	NP_001119603.1:p.Val645Leu
NM_002693.2:c.1933G>C	NP_002684.1:p.Val645Leu
NM_001126131.2:c.1933G>C	NP_001119603.1:p.Val645Leu
NM_002693.3:c.1933G>C MANE Select	NP_002684.1:p.Val645Leu