Canonical Allele Identifier: CA393756750

Gene: POLG

Linked Data

• gnomAD v4: 15-89323460-C-A
• MyVariant Identifiers: chr15:g.89866691C>A (hg19) ; chr15:g.89323460C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323460C>A , CM000677.2:g.89323460C>A	GRCh38
NC_000015.9:g.89866691C>A , CM000677.1:g.89866691C>A	GRCh37
NC_000015.8:g.87667695C>A	NCBI36
NG_008218.1:g.16336G>T
NG_008218.2:g.16336G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2209G>T	ENSP00000516154.1:p.Gly737Ter
ENST00000268124.11:c.2209G>T MANE Select	ENSP00000268124.5:p.Gly737Ter
ENST00000530292.3:c.1810G>T	ENSP00000432885.2:p.Gly604Ter
ENST00000635986.2:c.2209G>T	ENSP00000490653.2:p.Gly737Ter
ENST00000636774.1:c.*776G>T	ENSP00000489799.1:n.*776G>T
ENST00000637238.1:c.906G>T	ENSP00000490756.1:n.906G>T
ENST00000637264.1:c.1281G>T
ENST00000666746.1:c.1786G>T
ENST00000670281.1:c.529G>T	ENSP00000499709.1:p.Gly177Ter
ENST00000672071.1:n.2407G>T
ENST00000672923.2:n.2312G>T
ENST00000268124.9:c.2209G>T	ENSP00000268124.5:p.Gly737Ter
ENST00000442287.6:c.2209G>T	ENSP00000399851.2:p.Gly737Ter
ENST00000526314.2:c.539+355G>T
ENST00000526398.1:c.358G>T
ENST00000532584.5:n.411G>T
ENST00000631044.2:c.*1633G>T	ENSP00000486730.1:n.*1633G>T
NM_001126131.1:c.2209G>T	NP_001119603.1:p.Gly737Ter
NM_002693.2:c.2209G>T	NP_002684.1:p.Gly737Ter
NM_001126131.2:c.2209G>T	NP_001119603.1:p.Gly737Ter
NM_002693.3:c.2209G>T MANE Select	NP_002684.1:p.Gly737Ter