Canonical Allele Identifier: CA492288817

Gene: POLG

Linked Data

• ClinVar Variation Id: 2838270
• ClinVar RCV Id: RCV003628332
• dbSNP Id: rs1248663168
• gnomAD v2: 15-89861903-C-T
• gnomAD v3: 15-89318672-C-T
• gnomAD v4: 15-89318672-C-T
• MyVariant Identifiers: chr15:g.89861903C>T (hg19) ; chr15:g.89318672C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318672C>T , CM000677.2:g.89318672C>T	GRCh38
NC_000015.9:g.89861903C>T , CM000677.1:g.89861903C>T	GRCh37
NC_000015.8:g.87662907C>T	NCBI36
NG_008218.1:g.21124G>A
NG_011736.1:g.79710C>T , LRG_500:g.79710C>T
NG_008218.2:g.21124G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3351G>A	ENSP00000516154.1:p.Lys1117=
ENST00000268124.11:c.3351G>A MANE Select	ENSP00000268124.5:p.Lys1117=
ENST00000530292.3:c.2952G>A	ENSP00000432885.2:p.Lys984=
ENST00000635986.2:c.*421G>A	ENSP00000490653.2:n.*421G>A
ENST00000636774.1:c.*1918G>A	ENSP00000489799.1:n.*1918G>A
ENST00000637238.1:c.2160G>A	ENSP00000490756.1:n.2160G>A
ENST00000637264.1:c.2423G>A
ENST00000666746.1:c.2928G>A
ENST00000672071.1:n.3549G>A
ENST00000672695.1:n.528G>A
ENST00000672923.2:n.3351G>A
ENST00000268124.9:c.3351G>A	ENSP00000268124.5:p.Lys1117=
ENST00000442287.6:c.3351G>A	ENSP00000399851.2:p.Lys1117=
ENST00000530292.2:c.435G>A	ENSP00000432885.1:p.Lys145=
ENST00000631044.2:c.*2775G>A	ENSP00000486730.1:n.*2775G>A
NM_001126131.1:c.3351G>A	NP_001119603.1:p.Lys1117=
NM_002693.2:c.3351G>A	NP_002684.1:p.Lys1117=
NM_001126131.2:c.3351G>A	NP_001119603.1:p.Lys1117=
NM_002693.3:c.3351G>A MANE Select	NP_002684.1:p.Lys1117=