Canonical Allele Identifier: CA7725002

Gene: POLG

Linked Data

• ClinVar Variation Id: 1132087
• ClinVar RCV Id: RCV001466161
• dbSNP Id: rs769104909
• ExAC: 15:89872294 G / T
• gnomAD v2: 15-89872294-G-T
• gnomAD v3: 15-89329063-G-T
• gnomAD v4: 15-89329063-G-T
• MyVariant Identifiers: chr15:g.89872294G>T (hg19) ; chr15:g.89329063G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89329063G>T , CM000677.2:g.89329063G>T	GRCh38
NC_000015.9:g.89872294G>T , CM000677.1:g.89872294G>T	GRCh37
NC_000015.8:g.87673298G>T	NCBI36
NG_008218.1:g.10733C>A
NG_008218.2:g.10733C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.903C>A	ENSP00000516154.1:p.Ile301=
ENST00000268124.11:c.903C>A MANE Select	ENSP00000268124.5:p.Ile301=
ENST00000530292.3:c.504C>A	ENSP00000432885.2:p.Ile168=
ENST00000635986.2:c.903C>A	ENSP00000490653.2:p.Ile301=
ENST00000636774.1:c.903C>A	ENSP00000489799.1:p.Ile301=
ENST00000666746.1:c.560C>A
ENST00000672071.1:n.1101C>A
ENST00000268124.9:c.903C>A	ENSP00000268124.5:p.Ile301=
ENST00000442287.6:c.903C>A	ENSP00000399851.2:p.Ile301=
ENST00000631044.2:c.*286C>A	ENSP00000486730.1:n.*286C>A
NM_001126131.1:c.903C>A	NP_001119603.1:p.Ile301=
NM_002693.2:c.903C>A	NP_002684.1:p.Ile301=
NM_001126131.2:c.903C>A	NP_001119603.1:p.Ile301=
NM_002693.3:c.903C>A MANE Select	NP_002684.1:p.Ile301=