Canonical Allele Identifier: CA492080694

Gene: POLG POLGARF

Linked Data

• ClinVar Variation Id: 760438
• ClinVar RCV Id: RCV001478209
• dbSNP Id: rs1596360425
• gnomAD v4: 15-89330273-A-G
• MyVariant Identifiers: chr15:g.89873504A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89330273A>G , CM000677.2:g.89330273A>G	GRCh38
NC_000015.9:g.89873504A>G , CM000677.1:g.89873504A>G	GRCh37
NC_000015.8:g.87674508A>G	NCBI36
NG_008218.1:g.9523T>C
NG_008218.2:g.9523T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.663T>C (POLG)	ENSP00000516154.1:p.Tyr221=
ENST00000706918.1:c.718T>C (POLGARF)	ENSP00000516626.1:p.Phe240Leu
ENST00000268124.11:c.663T>C (POLG) MANE Select	ENSP00000268124.5:p.Tyr221=
ENST00000530292.3:c.264T>C (POLG)	ENSP00000432885.2:p.Tyr88=
ENST00000635986.2:c.663T>C (POLG)	ENSP00000490653.2:p.Tyr221=
ENST00000636774.1:c.663T>C (POLG)	ENSP00000489799.1:p.Tyr221=
ENST00000637307.1:c.50-12T>C (POLG)
ENST00000650303.2:c.718T>C (POLG)	ENSP00000497242.2:p.Phe240Leu
ENST00000666746.1:c.320T>C (POLG)
ENST00000672071.1:n.861T>C (POLG)
ENST00000268124.9:c.663T>C (POLG)	ENSP00000268124.5:p.Tyr221=
ENST00000442287.6:c.663T>C (POLG)	ENSP00000399851.2:p.Tyr221=
ENST00000631044.2:c.*46T>C (POLG)	ENSP00000486730.1:n.*46T>C
NM_001126131.1:c.663T>C (POLG)	NP_001119603.1:p.Tyr221=
NM_002693.2:c.663T>C (POLG)	NP_002684.1:p.Tyr221=
NM_001126131.2:c.663T>C (POLG)	NP_001119603.1:p.Tyr221=
NM_002693.3:c.663T>C (POLG) MANE Select	NP_002684.1:p.Tyr221=