Canonical Allele Identifier: CA393756630

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89866639T>A (hg19) ; chr15:g.89323408T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323408T>A , CM000677.2:g.89323408T>A	GRCh38
NC_000015.9:g.89866639T>A , CM000677.1:g.89866639T>A	GRCh37
NC_000015.8:g.87667643T>A	NCBI36
NG_008218.1:g.16388A>T
NG_008218.2:g.16388A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2261A>T	ENSP00000516154.1:p.His754Leu
ENST00000268124.11:c.2261A>T MANE Select	ENSP00000268124.5:p.His754Leu
ENST00000530292.3:c.1862A>T	ENSP00000432885.2:p.His621Leu
ENST00000635986.2:c.2261A>T	ENSP00000490653.2:p.His754Leu
ENST00000636774.1:c.*828A>T	ENSP00000489799.1:n.*828A>T
ENST00000637238.1:c.958A>T	ENSP00000490756.1:n.958A>T
ENST00000637264.1:c.1333A>T
ENST00000666746.1:c.1838A>T
ENST00000670281.1:c.581A>T	ENSP00000499709.1:p.His194Leu
ENST00000672071.1:n.2459A>T
ENST00000672923.2:n.2364A>T
ENST00000268124.9:c.2261A>T	ENSP00000268124.5:p.His754Leu
ENST00000442287.6:c.2261A>T	ENSP00000399851.2:p.His754Leu
ENST00000526314.2:c.539+407A>T
ENST00000526398.1:c.410A>T
ENST00000528881.2:c.30A>T
ENST00000530715.5:c.20A>T	ENSP00000431395.1:p.His7Leu
ENST00000532584.5:n.463A>T
ENST00000631044.2:c.*1685A>T	ENSP00000486730.1:n.*1685A>T
NM_001126131.1:c.2261A>T	NP_001119603.1:p.His754Leu
NM_002693.2:c.2261A>T	NP_002684.1:p.His754Leu
NM_001126131.2:c.2261A>T	NP_001119603.1:p.His754Leu
NM_002693.3:c.2261A>T MANE Select	NP_002684.1:p.His754Leu