Canonical Allele Identifier: CA292840

Gene: POLG

Linked Data

• ClinVar Variation Id: 138756
• ClinVar RCV Id: RCV000127533 ; RCV000338380 ; RCV000475971 ; RCV000676319 ; RCV001847753 ; RCV002312589
• dbSNP Id: rs61752780
• ExAC: 15:89862237 C / T
• gnomAD v2: 15-89862237-C-T
• gnomAD v3: 15-89319006-C-T
• gnomAD v4: 15-89319006-C-T
• MyVariant Identifiers: chr15:g.89862237C>T (hg19) ; chr15:g.89319006C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89319006C>T , CM000677.2:g.89319006C>T	GRCh38
NC_000015.9:g.89862237C>T , CM000677.1:g.89862237C>T	GRCh37
NC_000015.8:g.87663241C>T	NCBI36
NG_008218.1:g.20790G>A
NG_011736.1:g.80044C>T , LRG_500:g.80044C>T
NG_008218.2:g.20790G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3198G>A	ENSP00000516154.1:p.Thr1066=
ENST00000268124.11:c.3198G>A MANE Select	ENSP00000268124.5:p.Thr1066=
ENST00000530292.3:c.2799G>A	ENSP00000432885.2:p.Thr933=
ENST00000635986.2:c.*268G>A	ENSP00000490653.2:n.*268G>A
ENST00000636774.1:c.*1765G>A	ENSP00000489799.1:n.*1765G>A
ENST00000637238.1:c.2007G>A	ENSP00000490756.1:n.2007G>A
ENST00000637264.1:c.2270G>A
ENST00000666746.1:c.2775G>A
ENST00000672071.1:n.3396G>A
ENST00000672695.1:n.375G>A
ENST00000672923.2:n.3198G>A
ENST00000268124.9:c.3198G>A	ENSP00000268124.5:p.Thr1066=
ENST00000442287.6:c.3198G>A	ENSP00000399851.2:p.Thr1066=
ENST00000530292.2:c.282G>A	ENSP00000432885.1:p.Thr94=
ENST00000631044.2:c.*2622G>A	ENSP00000486730.1:n.*2622G>A
NM_001126131.1:c.3198G>A	NP_001119603.1:p.Thr1066=
NM_002693.2:c.3198G>A	NP_002684.1:p.Thr1066=
NM_001126131.2:c.3198G>A	NP_001119603.1:p.Thr1066=
NM_002693.3:c.3198G>A MANE Select	NP_002684.1:p.Thr1066=