Canonical Allele Identifier: CA393760710

Gene: POLG

Linked Data

• ClinVar Variation Id: 594064
• ClinVar RCV Id: RCV000729275
• dbSNP Id: rs1567191079
• MyVariant Identifiers: chr15:g.89870148T>A (hg19) ; chr15:g.89326917T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89326917T>A , CM000677.2:g.89326917T>A	GRCh38
NC_000015.9:g.89870148T>A , CM000677.1:g.89870148T>A	GRCh37
NC_000015.8:g.87671152T>A	NCBI36
NG_008218.1:g.12879A>T
NG_008218.2:g.12879A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.1580A>T	ENSP00000516154.1:p.Gln527Leu
ENST00000268124.11:c.1580A>T MANE Select	ENSP00000268124.5:p.Gln527Leu
ENST00000530292.3:c.1181A>T	ENSP00000432885.2:p.Gln394Leu
ENST00000635986.2:c.1580A>T	ENSP00000490653.2:p.Gln527Leu
ENST00000636774.1:c.*147A>T	ENSP00000489799.1:n.*147A>T
ENST00000637238.1:c.317A>T	ENSP00000490756.1:p.Gln106Leu
ENST00000637264.1:c.652A>T
ENST00000666746.1:c.1157A>T
ENST00000672071.1:n.1778A>T
ENST00000672923.2:n.1683A>T
ENST00000268124.9:c.1580A>T	ENSP00000268124.5:p.Gln527Leu
ENST00000442287.6:c.1580A>T	ENSP00000399851.2:p.Gln527Leu
ENST00000631044.2:c.*963A>T	ENSP00000486730.1:n.*963A>T
NM_001126131.1:c.1580A>T	NP_001119603.1:p.Gln527Leu
NM_002693.2:c.1580A>T	NP_002684.1:p.Gln527Leu
NM_001126131.2:c.1580A>T	NP_001119603.1:p.Gln527Leu
NM_002693.3:c.1580A>T MANE Select	NP_002684.1:p.Gln527Leu