Canonical Allele Identifier: CA492289517

Gene: POLG

Linked Data

• dbSNP Id: rs1247143136
• gnomAD v2: 15-89868890-T-A
• MyVariant Identifiers: chr15:g.89868890T>A (hg19) ; chr15:g.89325659T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325659T>A , CM000677.2:g.89325659T>A	GRCh38
NC_000015.9:g.89868890T>A , CM000677.1:g.89868890T>A	GRCh37
NC_000015.8:g.87669894T>A	NCBI36
NG_008218.1:g.14137A>T
NG_008218.2:g.14137A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1740A>T	ENSP00000516154.1:p.Leu580=
ENST00000268124.11:c.1740A>T MANE Select	ENSP00000268124.5:p.Leu580=
ENST00000530292.3:c.1341A>T	ENSP00000432885.2:p.Leu447=
ENST00000635986.2:c.1740A>T	ENSP00000490653.2:p.Leu580=
ENST00000636774.1:c.*307A>T	ENSP00000489799.1:n.*307A>T
ENST00000637238.1:c.477A>T	ENSP00000490756.1:p.Leu159=
ENST00000637264.1:c.812A>T
ENST00000666746.1:c.1317A>T
ENST00000670281.1:c.60A>T	ENSP00000499709.1:p.Leu20=
ENST00000672071.1:n.1938A>T
ENST00000672923.2:n.1843A>T
ENST00000268124.9:c.1740A>T	ENSP00000268124.5:p.Leu580=
ENST00000442287.6:c.1740A>T	ENSP00000399851.2:p.Leu580=
ENST00000526314.2:c.122A>T
ENST00000631044.2:c.*1123A>T	ENSP00000486730.1:n.*1123A>T
NM_001126131.1:c.1740A>T	NP_001119603.1:p.Leu580=
NM_002693.2:c.1740A>T	NP_002684.1:p.Leu580=
NM_001126131.2:c.1740A>T	NP_001119603.1:p.Leu580=
NM_002693.3:c.1740A>T MANE Select	NP_002684.1:p.Leu580=