Canonical Allele Identifier: CA393750033

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89861935C>A (hg19) ; chr15:g.89318704C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318704C>A , CM000677.2:g.89318704C>A	GRCh38
NC_000015.9:g.89861935C>A , CM000677.1:g.89861935C>A	GRCh37
NC_000015.8:g.87662939C>A	NCBI36
NG_008218.1:g.21092G>T
NG_011736.1:g.79742C>A , LRG_500:g.79742C>A
NG_008218.2:g.21092G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3319G>T	ENSP00000516154.1:p.Asp1107Tyr
ENST00000268124.11:c.3319G>T MANE Select	ENSP00000268124.5:p.Asp1107Tyr
ENST00000530292.3:c.2920G>T	ENSP00000432885.2:p.Asp974Tyr
ENST00000635986.2:c.*389G>T	ENSP00000490653.2:n.*389G>T
ENST00000636774.1:c.*1886G>T	ENSP00000489799.1:n.*1886G>T
ENST00000637238.1:c.2128G>T	ENSP00000490756.1:n.2128G>T
ENST00000637264.1:c.2391G>T
ENST00000666746.1:c.2896G>T
ENST00000672071.1:n.3517G>T
ENST00000672695.1:n.496G>T
ENST00000672923.2:n.3319G>T
ENST00000268124.9:c.3319G>T	ENSP00000268124.5:p.Asp1107Tyr
ENST00000442287.6:c.3319G>T	ENSP00000399851.2:p.Asp1107Tyr
ENST00000530292.2:c.403G>T	ENSP00000432885.1:p.Asp135Tyr
ENST00000631044.2:c.*2743G>T	ENSP00000486730.1:n.*2743G>T
NM_001126131.1:c.3319G>T	NP_001119603.1:p.Asp1107Tyr
NM_002693.2:c.3319G>T	NP_002684.1:p.Asp1107Tyr
NM_001126131.2:c.3319G>T	NP_001119603.1:p.Asp1107Tyr
NM_002693.3:c.3319G>T MANE Select	NP_002684.1:p.Asp1107Tyr