Canonical Allele Identifier: CA393750535

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89862196C>T (hg19) ; chr15:g.89318965C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318965C>T , CM000677.2:g.89318965C>T	GRCh38
NC_000015.9:g.89862196C>T , CM000677.1:g.89862196C>T	GRCh37
NC_000015.8:g.87663200C>T	NCBI36
NG_008218.1:g.20831G>A
NG_011736.1:g.80003C>T , LRG_500:g.80003C>T
NG_008218.2:g.20831G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.3239G>A	ENSP00000516154.1:p.Ser1080Asn
ENST00000268124.11:c.3239G>A MANE Select	ENSP00000268124.5:p.Ser1080Asn
ENST00000530292.3:c.2840G>A	ENSP00000432885.2:p.Ser947Asn
ENST00000635986.2:c.*309G>A	ENSP00000490653.2:n.*309G>A
ENST00000636774.1:c.*1806G>A	ENSP00000489799.1:n.*1806G>A
ENST00000637238.1:c.2048G>A	ENSP00000490756.1:n.2048G>A
ENST00000637264.1:c.2311G>A
ENST00000666746.1:c.2816G>A
ENST00000672071.1:n.3437G>A
ENST00000672695.1:n.416G>A
ENST00000672923.2:n.3239G>A
ENST00000268124.9:c.3239G>A	ENSP00000268124.5:p.Ser1080Asn
ENST00000442287.6:c.3239G>A	ENSP00000399851.2:p.Ser1080Asn
ENST00000530292.2:c.323G>A	ENSP00000432885.1:p.Ser108Asn
ENST00000631044.2:c.*2663G>A	ENSP00000486730.1:n.*2663G>A
NM_001126131.1:c.3239G>A	NP_001119603.1:p.Ser1080Asn
NM_002693.2:c.3239G>A	NP_002684.1:p.Ser1080Asn
NM_001126131.2:c.3239G>A	NP_001119603.1:p.Ser1080Asn
NM_002693.3:c.3239G>A MANE Select	NP_002684.1:p.Ser1080Asn