Canonical Allele Identifier: CA7724386

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89321202A>G , CM000677.2:g.89321202A>G	GRCh38
NC_000015.9:g.89864433A>G , CM000677.1:g.89864433A>G	GRCh37
NC_000015.8:g.87665437A>G	NCBI36
NG_008218.1:g.18594T>C
NG_008218.2:g.18594T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_002693.3:c.2657T>C MANE Select	NP_002684.1:p.Leu886Pro
ENST00000268124.11:c.2657T>C MANE Select	ENSP00000268124.5:p.Leu886Pro
NM_001126131.1:c.2657T>C	NP_001119603.1:p.Leu886Pro
NM_001126131.2:c.2657T>C	NP_001119603.1:p.Leu886Pro
NM_002693.2:c.2657T>C	NP_002684.1:p.Leu886Pro
ENST00000268124.9:c.2657T>C	ENSP00000268124.5:p.Leu886Pro
ENST00000442287.6:c.2657T>C	ENSP00000399851.2:p.Leu886Pro
ENST00000528881.2:c.254T>C
ENST00000530292.3:c.2258T>C	ENSP00000432885.2:p.Leu753Pro
ENST00000530715.5:c.186-333T>C	ENSP00000431395.1:n.186-333T>C
ENST00000631044.2:c.*2081T>C	ENSP00000486730.1:n.*2081T>C
ENST00000635986.2:c.2657T>C	ENSP00000490653.2:p.Leu886Pro
ENST00000636774.1:c.*1224T>C	ENSP00000489799.1:n.*1224T>C
ENST00000636937.2:c.2657T>C	ENSP00000516154.1:p.Leu886Pro
ENST00000637238.1:c.1354T>C	ENSP00000490756.1:n.1354T>C
ENST00000637264.1:c.1729T>C
ENST00000666746.1:c.2234T>C
ENST00000670281.1:c.800+760T>C	ENSP00000499709.1:n.800+760T>C
ENST00000672071.1:n.2855T>C
ENST00000672923.2:n.2599T>C