Canonical Allele Identifier: CA393761672

Gene: POLG

Linked Data

• ClinVar Variation Id: 1802265
• ClinVar RCV Id: RCV002465078
• MyVariant Identifiers: chr15:g.89870428T>A (hg19) ; chr15:g.89327197T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89327197T>A , CM000677.2:g.89327197T>A	GRCh38
NC_000015.9:g.89870428T>A , CM000677.1:g.89870428T>A	GRCh37
NC_000015.8:g.87671432T>A	NCBI36
NG_008218.1:g.12599A>T
NG_008218.2:g.12599A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1403A>T	ENSP00000516154.1:p.Asn468Ile
ENST00000268124.11:c.1403A>T MANE Select	ENSP00000268124.5:p.Asn468Ile
ENST00000530292.3:c.1004A>T	ENSP00000432885.2:p.Asn335Ile
ENST00000635986.2:c.1403A>T	ENSP00000490653.2:p.Asn468Ile
ENST00000636774.1:c.1403A>T	ENSP00000489799.1:p.Asn468Ile
ENST00000637238.1:c.140A>T	ENSP00000490756.1:p.Asn47Ile
ENST00000637264.1:c.475A>T
ENST00000666746.1:c.980A>T
ENST00000672071.1:n.1601A>T
ENST00000672923.2:n.1506A>T
ENST00000268124.9:c.1403A>T	ENSP00000268124.5:p.Asn468Ile
ENST00000442287.6:c.1403A>T	ENSP00000399851.2:p.Asn468Ile
ENST00000532363.2:n.261A>T
ENST00000631044.2:c.*786A>T	ENSP00000486730.1:n.*786A>T
NM_001126131.1:c.1403A>T	NP_001119603.1:p.Asn468Ile
NM_002693.2:c.1403A>T	NP_002684.1:p.Asn468Ile
NM_001126131.2:c.1403A>T	NP_001119603.1:p.Asn468Ile
NM_002693.3:c.1403A>T MANE Select	NP_002684.1:p.Asn468Ile