Canonical Allele Identifier: CA492289532

Gene: POLG

Linked Data

• dbSNP Id: rs1174014483
• gnomAD v2: 15-89868905-C-T
• gnomAD v4: 15-89325674-C-T
• MyVariant Identifiers: chr15:g.89868905C>T (hg19) ; chr15:g.89325674C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325674C>T , CM000677.2:g.89325674C>T	GRCh38
NC_000015.9:g.89868905C>T , CM000677.1:g.89868905C>T	GRCh37
NC_000015.8:g.87669909C>T	NCBI36
NG_008218.1:g.14122G>A
NG_008218.2:g.14122G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1725G>A	ENSP00000516154.1:p.Lys575=
ENST00000268124.11:c.1725G>A MANE Select	ENSP00000268124.5:p.Lys575=
ENST00000530292.3:c.1326G>A	ENSP00000432885.2:p.Lys442=
ENST00000635986.2:c.1725G>A	ENSP00000490653.2:p.Lys575=
ENST00000636774.1:c.*292G>A	ENSP00000489799.1:n.*292G>A
ENST00000637238.1:c.462G>A	ENSP00000490756.1:p.Lys154=
ENST00000637264.1:c.797G>A
ENST00000666746.1:c.1302G>A
ENST00000670281.1:c.45G>A	ENSP00000499709.1:p.Lys15=
ENST00000672071.1:n.1923G>A
ENST00000672923.2:n.1828G>A
ENST00000268124.9:c.1725G>A	ENSP00000268124.5:p.Lys575=
ENST00000442287.6:c.1725G>A	ENSP00000399851.2:p.Lys575=
ENST00000526314.2:c.107G>A
ENST00000631044.2:c.*1108G>A	ENSP00000486730.1:n.*1108G>A
NM_001126131.1:c.1725G>A	NP_001119603.1:p.Lys575=
NM_002693.2:c.1725G>A	NP_002684.1:p.Lys575=
NM_001126131.2:c.1725G>A	NP_001119603.1:p.Lys575=
NM_002693.3:c.1725G>A MANE Select	NP_002684.1:p.Lys575=