Canonical Allele Identifier: CA492070490

Gene: POLG

Linked Data

• ClinVar Variation Id: 1034711
• ClinVar RCV Id: RCV001337473 ; RCV001712892 ; RCV002456470
• dbSNP Id: rs1300892439
• gnomAD v2: 15-89860638-A-T
• gnomAD v3: 15-89317407-A-T
• gnomAD v4: 15-89317407-A-T
• MyVariant Identifiers: chr15:g.89860638A>T (hg19) ; chr15:g.89317407A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317407A>T , CM000677.2:g.89317407A>T	GRCh38
NC_000015.9:g.89860638A>T , CM000677.1:g.89860638A>T	GRCh37
NC_000015.8:g.87661642A>T	NCBI36
NG_008218.1:g.22389T>A
NG_011736.1:g.78445A>T , LRG_500:g.78445A>T
NG_008218.2:g.22389T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3612T>A	ENSP00000516154.1:p.Thr1204=
ENST00000268124.11:c.3612T>A MANE Select	ENSP00000268124.5:p.Thr1204=
ENST00000530292.3:c.3312T>A	ENSP00000432885.2:n.3312T>A
ENST00000635986.2:c.*682T>A	ENSP00000490653.2:n.*682T>A
ENST00000636774.1:c.*2216T>A	ENSP00000489799.1:n.*2216T>A
ENST00000637238.1:c.2520T>A	ENSP00000490756.1:n.2520T>A
ENST00000637264.1:c.2624T>A
ENST00000666746.1:c.3189T>A
ENST00000672071.1:n.4814T>A
ENST00000672695.1:n.1391T>A
ENST00000672923.2:n.3612T>A
ENST00000268124.9:c.3612T>A	ENSP00000268124.5:p.Thr1204=
ENST00000442287.6:c.3612T>A	ENSP00000399851.2:p.Thr1204=
ENST00000526671.1:n.422T>A
ENST00000530292.2:c.795T>A	ENSP00000432885.1:n.795T>A
ENST00000631044.2:c.*3036T>A	ENSP00000486730.1:n.*3036T>A
NM_001126131.1:c.3612T>A	NP_001119603.1:p.Thr1204=
NM_002693.2:c.3612T>A	NP_002684.1:p.Thr1204=
NM_001126131.2:c.3612T>A	NP_001119603.1:p.Thr1204=
NM_002693.3:c.3612T>A MANE Select	NP_002684.1:p.Thr1204=