Canonical Allele Identifier: CA7724101

Gene: POLG

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317477C>T , CM000677.2:g.89317477C>T	GRCh38
NC_000015.9:g.89860708C>T , CM000677.1:g.89860708C>T	GRCh37
NC_000015.8:g.87661712C>T	NCBI36
NG_008218.1:g.22319G>A
NG_011736.1:g.78515C>T , LRG_500:g.78515C>T
NG_008218.2:g.22319G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3542G>A	ENSP00000516154.1:p.Ser1181Asn
ENST00000268124.11:c.3542G>A MANE Select	ENSP00000268124.5:p.Ser1181Asn
ENST00000530292.3:c.3242G>A	ENSP00000432885.2:n.3242G>A
ENST00000635986.2:c.*612G>A	ENSP00000490653.2:n.*612G>A
ENST00000636774.1:c.*2146G>A	ENSP00000489799.1:n.*2146G>A
ENST00000637042.1:n.72-6G>A
ENST00000637238.1:c.2450G>A	ENSP00000490756.1:n.2450G>A
ENST00000637264.1:c.2555-1G>A
ENST00000666746.1:c.3119G>A
ENST00000672071.1:n.4744G>A
ENST00000672695.1:n.1321G>A
ENST00000672923.2:n.3542G>A
ENST00000268124.9:c.3542G>A	ENSP00000268124.5:p.Ser1181Asn
ENST00000442287.6:c.3542G>A	ENSP00000399851.2:p.Ser1181Asn
ENST00000526671.1:n.352G>A
ENST00000530292.2:c.725G>A	ENSP00000432885.1:n.725G>A
ENST00000631044.2:c.*2966G>A	ENSP00000486730.1:n.*2966G>A
NM_001126131.1:c.3542G>A	NP_001119603.1:p.Ser1181Asn
NM_002693.2:c.3542G>A	NP_002684.1:p.Ser1181Asn
NM_001126131.2:c.3542G>A	NP_001119603.1:p.Ser1181Asn
NM_002693.3:c.3542G>A MANE Select	NP_002684.1:p.Ser1181Asn