Canonical Allele Identifier: CA7724227

Gene: POLG

Linked Data

• ClinVar Variation Id: 888160
• ClinVar RCV Id: RCV001121337 ; RCV002286812 ; RCV002556611
• dbSNP Id: rs754039113
• ExAC: 15:89862315 C / G
• gnomAD v2: 15-89862315-C-G
• gnomAD v3: 15-89319084-C-G
• gnomAD v4: 15-89319084-C-G
• MyVariant Identifiers: chr15:g.89862315C>G (hg19) ; chr15:g.89319084C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89319084C>G , CM000677.2:g.89319084C>G	GRCh38
NC_000015.9:g.89862315C>G , CM000677.1:g.89862315C>G	GRCh37
NC_000015.8:g.87663319C>G	NCBI36
NG_008218.1:g.20712G>C
NG_011736.1:g.80122C>G , LRG_500:g.80122C>G
NG_008218.2:g.20712G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3120G>C	ENSP00000516154.1:p.Lys1040Asn
ENST00000268124.11:c.3120G>C MANE Select	ENSP00000268124.5:p.Lys1040Asn
ENST00000530292.3:c.2721G>C	ENSP00000432885.2:p.Lys907Asn
ENST00000635986.2:c.*190G>C	ENSP00000490653.2:n.*190G>C
ENST00000636530.1:n.80G>C
ENST00000636774.1:c.*1687G>C	ENSP00000489799.1:n.*1687G>C
ENST00000637238.1:c.1929G>C	ENSP00000490756.1:n.1929G>C
ENST00000637264.1:c.2192G>C
ENST00000666746.1:c.2697G>C
ENST00000672071.1:n.3318G>C
ENST00000672695.1:n.297G>C
ENST00000672923.2:n.3120G>C
ENST00000268124.9:c.3120G>C	ENSP00000268124.5:p.Lys1040Asn
ENST00000442287.6:c.3120G>C	ENSP00000399851.2:p.Lys1040Asn
ENST00000530292.2:c.204G>C	ENSP00000432885.1:p.Lys68Asn
ENST00000631044.2:c.*2544G>C	ENSP00000486730.1:n.*2544G>C
NM_001126131.1:c.3120G>C	NP_001119603.1:p.Lys1040Asn
NM_002693.2:c.3120G>C	NP_002684.1:p.Lys1040Asn
NM_001126131.2:c.3120G>C	NP_001119603.1:p.Lys1040Asn
NM_002693.3:c.3120G>C MANE Select	NP_002684.1:p.Lys1040Asn