Canonical Allele Identifier: CA10602266

Gene: POLG

Linked Data

• ClinVar Variation Id: 619433
• ClinVar RCV Id: RCV000758469
• dbSNP Id: rs587780421
• MyVariant Identifiers: chr15:g.89861961T>A (hg19) ; chr15:g.89318730T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318730T>A , CM000677.2:g.89318730T>A	GRCh38
NC_000015.9:g.89861961T>A , CM000677.1:g.89861961T>A	GRCh37
NC_000015.8:g.87662965T>A	NCBI36
NG_008218.1:g.21066A>T
NG_011736.1:g.79768T>A , LRG_500:g.79768T>A
NG_008218.2:g.21066A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3293A>T	ENSP00000516154.1:p.Asn1098Ile
ENST00000268124.11:c.3293A>T MANE Select	ENSP00000268124.5:p.Asn1098Ile
ENST00000530292.3:c.2894A>T	ENSP00000432885.2:p.Asn965Ile
ENST00000635986.2:c.*363A>T	ENSP00000490653.2:n.*363A>T
ENST00000636774.1:c.*1860A>T	ENSP00000489799.1:n.*1860A>T
ENST00000637238.1:c.2102A>T	ENSP00000490756.1:n.2102A>T
ENST00000637264.1:c.2365A>T
ENST00000666746.1:c.2870A>T
ENST00000672071.1:n.3491A>T
ENST00000672695.1:n.470A>T
ENST00000672923.2:n.3293A>T
ENST00000268124.9:c.3293A>T	ENSP00000268124.5:p.Asn1098Ile
ENST00000442287.6:c.3293A>T	ENSP00000399851.2:p.Asn1098Ile
ENST00000530292.2:c.377A>T	ENSP00000432885.1:p.Asn126Ile
ENST00000631044.2:c.*2717A>T	ENSP00000486730.1:n.*2717A>T
NM_001126131.1:c.3293A>T	NP_001119603.1:p.Asn1098Ile
NM_002693.2:c.3293A>T	NP_002684.1:p.Asn1098Ile
NM_001126131.2:c.3293A>T	NP_001119603.1:p.Asn1098Ile
NM_002693.3:c.3293A>T MANE Select	NP_002684.1:p.Asn1098Ile