Canonical Allele Identifier: CA292845

Gene: POLG

Linked Data

• ClinVar Variation Id: 21313
• ClinVar RCV Id: RCV000513124 ; RCV000545884
• dbSNP Id: rs2307440
• ExAC: 15:89861818 G / A
• gnomAD v2: 15-89861818-G-A
• gnomAD v3: 15-89318587-G-A
• gnomAD v4: 15-89318587-G-A
• MyVariant Identifiers: chr15:g.89861818G>A (hg19) ; chr15:g.89318587G>A (hg38)
• PubMed: PMID:20301791

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318587G>A , CM000677.2:g.89318587G>A	GRCh38
NC_000015.9:g.89861818G>A , CM000677.1:g.89861818G>A	GRCh37
NC_000015.8:g.87662822G>A	NCBI36
NG_008218.1:g.21209C>T
NG_011736.1:g.79625G>A , LRG_500:g.79625G>A
NG_008218.2:g.21209C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.3436C>T	ENSP00000516154.1:p.Arg1146Cys
ENST00000268124.11:c.3436C>T MANE Select	ENSP00000268124.5:p.Arg1146Cys
ENST00000530292.3:c.3037C>T	ENSP00000432885.2:p.Arg1013Cys
ENST00000635986.2:c.*506C>T	ENSP00000490653.2:n.*506C>T
ENST00000636774.1:c.*2003C>T	ENSP00000489799.1:n.*2003C>T
ENST00000637238.1:c.2245C>T	ENSP00000490756.1:n.2245C>T
ENST00000637264.1:c.2508C>T
ENST00000666746.1:c.3013C>T
ENST00000672071.1:n.3634C>T
ENST00000672695.1:n.613C>T
ENST00000672923.2:n.3436C>T
ENST00000268124.9:c.3436C>T	ENSP00000268124.5:p.Arg1146Cys
ENST00000442287.6:c.3436C>T	ENSP00000399851.2:p.Arg1146Cys
ENST00000530292.2:c.520C>T	ENSP00000432885.1:p.Arg174Cys
ENST00000631044.2:c.*2860C>T	ENSP00000486730.1:n.*2860C>T
NM_001126131.1:c.3436C>T	NP_001119603.1:p.Arg1146Cys
NM_002693.2:c.3436C>T	NP_002684.1:p.Arg1146Cys
NM_001126131.2:c.3436C>T	NP_001119603.1:p.Arg1146Cys
NM_002693.3:c.3436C>T MANE Select	NP_002684.1:p.Arg1146Cys