Canonical Allele Identifier: CA393756686

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89866664C>A (hg19) ; chr15:g.89323433C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323433C>A , CM000677.2:g.89323433C>A	GRCh38
NC_000015.9:g.89866664C>A , CM000677.1:g.89866664C>A	GRCh37
NC_000015.8:g.87667668C>A	NCBI36
NG_008218.1:g.16363G>T
NG_008218.2:g.16363G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.2236G>T	ENSP00000516154.1:p.Gly746Cys
ENST00000268124.11:c.2236G>T MANE Select	ENSP00000268124.5:p.Gly746Cys
ENST00000530292.3:c.1837G>T	ENSP00000432885.2:p.Gly613Cys
ENST00000635986.2:c.2236G>T	ENSP00000490653.2:p.Gly746Cys
ENST00000636774.1:c.*803G>T	ENSP00000489799.1:n.*803G>T
ENST00000637238.1:c.933G>T	ENSP00000490756.1:n.933G>T
ENST00000637264.1:c.1308G>T
ENST00000666746.1:c.1813G>T
ENST00000670281.1:c.556G>T	ENSP00000499709.1:p.Gly186Cys
ENST00000672071.1:n.2434G>T
ENST00000672923.2:n.2339G>T
ENST00000268124.9:c.2236G>T	ENSP00000268124.5:p.Gly746Cys
ENST00000442287.6:c.2236G>T	ENSP00000399851.2:p.Gly746Cys
ENST00000526314.2:c.539+382G>T
ENST00000526398.1:c.385G>T
ENST00000528881.2:c.5G>T
ENST00000532584.5:n.438G>T
ENST00000631044.2:c.*1660G>T	ENSP00000486730.1:n.*1660G>T
NM_001126131.1:c.2236G>T	NP_001119603.1:p.Gly746Cys
NM_002693.2:c.2236G>T	NP_002684.1:p.Gly746Cys
NM_001126131.2:c.2236G>T	NP_001119603.1:p.Gly746Cys
NM_002693.3:c.2236G>T MANE Select	NP_002684.1:p.Gly746Cys