Canonical Allele Identifier: CA7724353

Gene: POLG

Linked Data

• ClinVar Variation Id: 279961
• ClinVar RCV Id: RCV001848045 ; RCV002494810 ; RCV003985765
• dbSNP Id: rs139590686
• ExAC: 15:89864238 T / G
• gnomAD v2: 15-89864238-T-G
• gnomAD v3: 15-89321007-T-G
• gnomAD v4: 15-89321007-T-G
• MyVariant Identifiers: chr15:g.89864238T>G (hg19) ; chr15:g.89321007T>G (hg38)
• PubMed: PMID:16545482 ; PMID:16621917 ; PMID:16639411 ; PMID:18546365 ; PMID:20837861 ; PMID:23084792 ; PMID:23446635 ; PMID:23921535 ; PMID:25160553

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89321007T>G , CM000677.2:g.89321007T>G	GRCh38
NC_000015.9:g.89864238T>G , CM000677.1:g.89864238T>G	GRCh37
NC_000015.8:g.87665242T>G	NCBI36
NG_008218.1:g.18789A>C
NG_008218.2:g.18789A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.2740A>C	ENSP00000516154.1:p.Thr914Pro
ENST00000268124.11:c.2740A>C MANE Select	ENSP00000268124.5:p.Thr914Pro
ENST00000530292.3:c.2341A>C	ENSP00000432885.2:p.Thr781Pro
ENST00000635986.2:c.2740A>C	ENSP00000490653.2:p.Thr914Pro
ENST00000636774.1:c.*1307A>C	ENSP00000489799.1:n.*1307A>C
ENST00000637238.1:c.1549A>C	ENSP00000490756.1:n.1549A>C
ENST00000637264.1:c.1812A>C
ENST00000666746.1:c.2317A>C
ENST00000670281.1:c.800+955A>C	ENSP00000499709.1:n.800+955A>C
ENST00000672071.1:n.2938A>C
ENST00000672923.2:n.2682A>C
ENST00000268124.9:c.2740A>C	ENSP00000268124.5:p.Thr914Pro
ENST00000442287.6:c.2740A>C	ENSP00000399851.2:p.Thr914Pro
ENST00000528881.2:c.337A>C
ENST00000530715.5:c.186-138A>C	ENSP00000431395.1:n.186-138A>C
ENST00000631044.2:c.*2164A>C	ENSP00000486730.1:n.*2164A>C
NM_001126131.1:c.2740A>C	NP_001119603.1:p.Thr914Pro
NM_002693.2:c.2740A>C	NP_002684.1:p.Thr914Pro
NM_001126131.2:c.2740A>C	NP_001119603.1:p.Thr914Pro
NM_002693.3:c.2740A>C MANE Select	NP_002684.1:p.Thr914Pro