Canonical Allele Identifier: CA492289604

Gene: POLG

Linked Data

• gnomAD v4: 15-89327042-G-A
• MyVariant Identifiers: chr15:g.89870273G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89327042G>A , CM000677.2:g.89327042G>A	GRCh38
NC_000015.9:g.89870273G>A , CM000677.1:g.89870273G>A	GRCh37
NC_000015.8:g.87671277G>A	NCBI36
NG_008218.1:g.12754C>T
NG_008218.2:g.12754C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1455C>T	ENSP00000516154.1:p.Leu485=
ENST00000268124.11:c.1455C>T MANE Select	ENSP00000268124.5:p.Leu485=
ENST00000530292.3:c.1056C>T	ENSP00000432885.2:p.Leu352=
ENST00000635986.2:c.1455C>T	ENSP00000490653.2:p.Leu485=
ENST00000636774.1:c.*22C>T	ENSP00000489799.1:n.*22C>T
ENST00000637238.1:c.192C>T	ENSP00000490756.1:p.Leu64=
ENST00000637264.1:c.527C>T
ENST00000666746.1:c.1032C>T
ENST00000672071.1:n.1653C>T
ENST00000672923.2:n.1558C>T
ENST00000268124.9:c.1455C>T	ENSP00000268124.5:p.Leu485=
ENST00000442287.6:c.1455C>T	ENSP00000399851.2:p.Leu485=
ENST00000532363.2:n.416C>T
ENST00000631044.2:c.*838C>T	ENSP00000486730.1:n.*838C>T
NM_001126131.1:c.1455C>T	NP_001119603.1:p.Leu485=
NM_002693.2:c.1455C>T	NP_002684.1:p.Leu485=
NM_001126131.2:c.1455C>T	NP_001119603.1:p.Leu485=
NM_002693.3:c.1455C>T MANE Select	NP_002684.1:p.Leu485=