Canonical Allele Identifier: CA256893

Gene: POLG

Linked Data

• ClinVar Variation Id: 13501
• ClinVar RCV Id: RCV000014455 ; RCV000188604 ; RCV000226986 ; RCV000778451 ; RCV001252354 ; RCV002251905
• dbSNP Id: rs121918049
• ExAC: 15:89862284 C / G
• gnomAD v2: 15-89862284-C-G
• gnomAD v3: 15-89319053-C-G
• gnomAD v4: 15-89319053-C-G
• MyVariant Identifiers: chr15:g.89862284C>G (hg19) ; chr15:g.89319053C>G (hg38)
• PubMed: PMID:14745080

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89319053C>G , CM000677.2:g.89319053C>G	GRCh38
NC_000015.9:g.89862284C>G , CM000677.1:g.89862284C>G	GRCh37
NC_000015.8:g.87663288C>G	NCBI36
NG_008218.1:g.20743G>C
NG_011736.1:g.80091C>G , LRG_500:g.80091C>G
NG_008218.2:g.20743G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3151G>C	ENSP00000516154.1:p.Gly1051Arg
ENST00000268124.11:c.3151G>C MANE Select	ENSP00000268124.5:p.Gly1051Arg
ENST00000530292.3:c.2752G>C	ENSP00000432885.2:p.Gly918Arg
ENST00000635986.2:c.*221G>C	ENSP00000490653.2:n.*221G>C
ENST00000636774.1:c.*1718G>C	ENSP00000489799.1:n.*1718G>C
ENST00000637238.1:c.1960G>C	ENSP00000490756.1:n.1960G>C
ENST00000637264.1:c.2223G>C
ENST00000666746.1:c.2728G>C
ENST00000672071.1:n.3349G>C
ENST00000672695.1:n.328G>C
ENST00000672923.2:n.3151G>C
ENST00000268124.9:c.3151G>C	ENSP00000268124.5:p.Gly1051Arg
ENST00000442287.6:c.3151G>C	ENSP00000399851.2:p.Gly1051Arg
ENST00000530292.2:c.235G>C	ENSP00000432885.1:p.Gly79Arg
ENST00000631044.2:c.*2575G>C	ENSP00000486730.1:n.*2575G>C
NM_001126131.1:c.3151G>C	NP_001119603.1:p.Gly1051Arg
NM_002693.2:c.3151G>C	NP_002684.1:p.Gly1051Arg
NM_001126131.2:c.3151G>C	NP_001119603.1:p.Gly1051Arg
NM_002693.3:c.3151G>C MANE Select	NP_002684.1:p.Gly1051Arg