Canonical Allele Identifier: CA393759443

Gene: POLG

Linked Data

• gnomAD v4: 15-89325651-G-A
• MyVariant Identifiers: chr15:g.89868882G>A (hg19) ; chr15:g.89325651G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325651G>A , CM000677.2:g.89325651G>A	GRCh38
NC_000015.9:g.89868882G>A , CM000677.1:g.89868882G>A	GRCh37
NC_000015.8:g.87669886G>A	NCBI36
NG_008218.1:g.14145C>T
NG_008218.2:g.14145C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1748C>T	ENSP00000516154.1:p.Pro583Leu
ENST00000268124.11:c.1748C>T MANE Select	ENSP00000268124.5:p.Pro583Leu
ENST00000530292.3:c.1349C>T	ENSP00000432885.2:p.Pro450Leu
ENST00000635986.2:c.1748C>T	ENSP00000490653.2:p.Pro583Leu
ENST00000636774.1:c.*315C>T	ENSP00000489799.1:n.*315C>T
ENST00000637238.1:c.485C>T	ENSP00000490756.1:p.Pro162Leu
ENST00000637264.1:c.820C>T
ENST00000666746.1:c.1325C>T
ENST00000670281.1:c.68C>T	ENSP00000499709.1:p.Pro23Leu
ENST00000672071.1:n.1946C>T
ENST00000672923.2:n.1851C>T
ENST00000268124.9:c.1748C>T	ENSP00000268124.5:p.Pro583Leu
ENST00000442287.6:c.1748C>T	ENSP00000399851.2:p.Pro583Leu
ENST00000526314.2:c.130C>T
ENST00000631044.2:c.*1131C>T	ENSP00000486730.1:n.*1131C>T
NM_001126131.1:c.1748C>T	NP_001119603.1:p.Pro583Leu
NM_002693.2:c.1748C>T	NP_002684.1:p.Pro583Leu
NM_001126131.2:c.1748C>T	NP_001119603.1:p.Pro583Leu
NM_002693.3:c.1748C>T MANE Select	NP_002684.1:p.Pro583Leu