Canonical Allele Identifier: CA393747659

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89860700C>A (hg19) ; chr15:g.89317469C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317469C>A , CM000677.2:g.89317469C>A	GRCh38
NC_000015.9:g.89860700C>A , CM000677.1:g.89860700C>A	GRCh37
NC_000015.8:g.87661704C>A	NCBI36
NG_008218.1:g.22327G>T
NG_011736.1:g.78507C>A , LRG_500:g.78507C>A
NG_008218.2:g.22327G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3550G>T	ENSP00000516154.1:p.Asp1184Tyr
ENST00000268124.11:c.3550G>T MANE Select	ENSP00000268124.5:p.Asp1184Tyr
ENST00000530292.3:c.3250G>T	ENSP00000432885.2:n.3250G>T
ENST00000635986.2:c.*620G>T	ENSP00000490653.2:n.*620G>T
ENST00000636774.1:c.*2154G>T	ENSP00000489799.1:n.*2154G>T
ENST00000637042.1:n.74G>T
ENST00000637238.1:c.2458G>T	ENSP00000490756.1:n.2458G>T
ENST00000637264.1:c.2562G>T
ENST00000666746.1:c.3127G>T
ENST00000672071.1:n.4752G>T
ENST00000672695.1:n.1329G>T
ENST00000672923.2:n.3550G>T
ENST00000268124.9:c.3550G>T	ENSP00000268124.5:p.Asp1184Tyr
ENST00000442287.6:c.3550G>T	ENSP00000399851.2:p.Asp1184Tyr
ENST00000526671.1:n.360G>T
ENST00000530292.2:c.733G>T	ENSP00000432885.1:n.733G>T
ENST00000631044.2:c.*2974G>T	ENSP00000486730.1:n.*2974G>T
NM_001126131.1:c.3550G>T	NP_001119603.1:p.Asp1184Tyr
NM_002693.2:c.3550G>T	NP_002684.1:p.Asp1184Tyr
NM_001126131.2:c.3550G>T	NP_001119603.1:p.Asp1184Tyr
NM_002693.3:c.3550G>T MANE Select	NP_002684.1:p.Asp1184Tyr