Canonical Allele Identifier: CA492070525

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89860647G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317416G>A , CM000677.2:g.89317416G>A	GRCh38
NC_000015.9:g.89860647G>A , CM000677.1:g.89860647G>A	GRCh37
NC_000015.8:g.87661651G>A	NCBI36
NG_008218.1:g.22380C>T
NG_011736.1:g.78454G>A , LRG_500:g.78454G>A
NG_008218.2:g.22380C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3603C>T	ENSP00000516154.1:p.Ser1201=
ENST00000268124.11:c.3603C>T MANE Select	ENSP00000268124.5:p.Ser1201=
ENST00000530292.3:c.3303C>T	ENSP00000432885.2:n.3303C>T
ENST00000635986.2:c.*673C>T	ENSP00000490653.2:n.*673C>T
ENST00000636774.1:c.*2207C>T	ENSP00000489799.1:n.*2207C>T
ENST00000637238.1:c.2511C>T	ENSP00000490756.1:n.2511C>T
ENST00000637264.1:c.2615C>T
ENST00000666746.1:c.3180C>T
ENST00000672071.1:n.4805C>T
ENST00000672695.1:n.1382C>T
ENST00000672923.2:n.3603C>T
ENST00000268124.9:c.3603C>T	ENSP00000268124.5:p.Ser1201=
ENST00000442287.6:c.3603C>T	ENSP00000399851.2:p.Ser1201=
ENST00000526671.1:n.413C>T
ENST00000530292.2:c.786C>T	ENSP00000432885.1:n.786C>T
ENST00000631044.2:c.*3027C>T	ENSP00000486730.1:n.*3027C>T
NM_001126131.1:c.3603C>T	NP_001119603.1:p.Ser1201=
NM_002693.2:c.3603C>T	NP_002684.1:p.Ser1201=
NM_001126131.2:c.3603C>T	NP_001119603.1:p.Ser1201=
NM_002693.3:c.3603C>T MANE Select	NP_002684.1:p.Ser1201=