Canonical Allele Identifier: CA393750629

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89862221T>C (hg19) ; chr15:g.89318990T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318990T>C , CM000677.2:g.89318990T>C	GRCh38
NC_000015.9:g.89862221T>C , CM000677.1:g.89862221T>C	GRCh37
NC_000015.8:g.87663225T>C	NCBI36
NG_008218.1:g.20806A>G
NG_011736.1:g.80028T>C , LRG_500:g.80028T>C
NG_008218.2:g.20806A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3214A>G	ENSP00000516154.1:p.Thr1072Ala
ENST00000268124.11:c.3214A>G MANE Select	ENSP00000268124.5:p.Thr1072Ala
ENST00000530292.3:c.2815A>G	ENSP00000432885.2:p.Thr939Ala
ENST00000635986.2:c.*284A>G	ENSP00000490653.2:n.*284A>G
ENST00000636774.1:c.*1781A>G	ENSP00000489799.1:n.*1781A>G
ENST00000637238.1:c.2023A>G	ENSP00000490756.1:n.2023A>G
ENST00000637264.1:c.2286A>G
ENST00000666746.1:c.2791A>G
ENST00000672071.1:n.3412A>G
ENST00000672695.1:n.391A>G
ENST00000672923.2:n.3214A>G
ENST00000268124.9:c.3214A>G	ENSP00000268124.5:p.Thr1072Ala
ENST00000442287.6:c.3214A>G	ENSP00000399851.2:p.Thr1072Ala
ENST00000530292.2:c.298A>G	ENSP00000432885.1:p.Thr100Ala
ENST00000631044.2:c.*2638A>G	ENSP00000486730.1:n.*2638A>G
NM_001126131.1:c.3214A>G	NP_001119603.1:p.Thr1072Ala
NM_002693.2:c.3214A>G	NP_002684.1:p.Thr1072Ala
NM_001126131.2:c.3214A>G	NP_001119603.1:p.Thr1072Ala
NM_002693.3:c.3214A>G MANE Select	NP_002684.1:p.Thr1072Ala