Canonical Allele Identifier: CA16043778

Gene: POLG

Linked Data

• ClinVar Variation Id: 374525
• ClinVar RCV Id: RCV000416015
• dbSNP Id: rs1057519139
• MyVariant Identifiers: chr15:g.89860693T>A (hg19) ; chr15:g.89317462T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317462T>A , CM000677.2:g.89317462T>A	GRCh38
NC_000015.9:g.89860693T>A , CM000677.1:g.89860693T>A	GRCh37
NC_000015.8:g.87661697T>A	NCBI36
NG_008218.1:g.22334A>T
NG_011736.1:g.78500T>A , LRG_500:g.78500T>A
NG_008218.2:g.22334A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3557A>T	ENSP00000516154.1:p.Asp1186Val
ENST00000268124.11:c.3557A>T MANE Select	ENSP00000268124.5:p.Asp1186Val
ENST00000530292.3:c.3257A>T	ENSP00000432885.2:n.3257A>T
ENST00000635986.2:c.*627A>T	ENSP00000490653.2:n.*627A>T
ENST00000636774.1:c.*2161A>T	ENSP00000489799.1:n.*2161A>T
ENST00000637042.1:n.81A>T
ENST00000637238.1:c.2465A>T	ENSP00000490756.1:n.2465A>T
ENST00000637264.1:c.2569A>T
ENST00000666746.1:c.3134A>T
ENST00000672071.1:n.4759A>T
ENST00000672695.1:n.1336A>T
ENST00000672923.2:n.3557A>T
ENST00000268124.9:c.3557A>T	ENSP00000268124.5:p.Asp1186Val
ENST00000442287.6:c.3557A>T	ENSP00000399851.2:p.Asp1186Val
ENST00000526671.1:n.367A>T
ENST00000530292.2:c.740A>T	ENSP00000432885.1:n.740A>T
ENST00000631044.2:c.*2981A>T	ENSP00000486730.1:n.*2981A>T
NM_001126131.1:c.3557A>T	NP_001119603.1:p.Asp1186Val
NM_002693.2:c.3557A>T	NP_002684.1:p.Asp1186Val
NM_001126131.2:c.3557A>T	NP_001119603.1:p.Asp1186Val
NM_002693.3:c.3557A>T MANE Select	NP_002684.1:p.Asp1186Val