Canonical Allele Identifier: CA316596

Gene: POLG

Linked Data

• ClinVar Variation Id: 206470
• ClinVar RCV Id: RCV000551001 ; RCV000710186 ; RCV000765239 ; RCV001121338 ; RCV001332169
• dbSNP Id: rs551708243
• ExAC: 15:89862465 G / A
• gnomAD v2: 15-89862465-G-A
• gnomAD v3: 15-89319234-G-A
• gnomAD v4: 15-89319234-G-A
• COSMIC: COSM5971590
• MyVariant Identifiers: chr15:g.89862465G>A (hg19) ; chr15:g.89319234G>A (hg38)
• PubMed: PMID:21880868

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89319234G>A , CM000677.2:g.89319234G>A	GRCh38
NC_000015.9:g.89862465G>A , CM000677.1:g.89862465G>A	GRCh37
NC_000015.8:g.87663469G>A	NCBI36
NG_008218.1:g.20562C>T
NG_008218.2:g.20562C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3098C>T	ENSP00000516154.1:p.Ala1033Val
ENST00000268124.11:c.3098C>T MANE Select	ENSP00000268124.5:p.Ala1033Val
ENST00000530292.3:c.2699C>T	ENSP00000432885.2:p.Ala900Val
ENST00000635986.2:c.*168C>T	ENSP00000490653.2:n.*168C>T
ENST00000636530.1:n.58C>T
ENST00000636774.1:c.*1665C>T	ENSP00000489799.1:n.*1665C>T
ENST00000637238.1:c.1907C>T	ENSP00000490756.1:n.1907C>T
ENST00000637264.1:c.2170C>T
ENST00000666746.1:c.2675C>T
ENST00000672071.1:n.3296C>T
ENST00000672695.1:n.275C>T
ENST00000672923.2:n.3098C>T
ENST00000268124.9:c.3098C>T	ENSP00000268124.5:p.Ala1033Val
ENST00000442287.6:c.3098C>T	ENSP00000399851.2:p.Ala1033Val
ENST00000530292.2:c.182C>T	ENSP00000432885.1:p.Ala61Val
ENST00000631044.2:c.*2522C>T	ENSP00000486730.1:n.*2522C>T
NM_001126131.1:c.3098C>T	NP_001119603.1:p.Ala1033Val
NM_002693.2:c.3098C>T	NP_002684.1:p.Ala1033Val
NM_001126131.2:c.3098C>T	NP_001119603.1:p.Ala1033Val
NM_002693.3:c.3098C>T MANE Select	NP_002684.1:p.Ala1033Val