Canonical Allele Identifier: CA7724156

Gene: POLG

Linked Data

• dbSNP Id: rs573272388
• ExAC: 15:89861894 A / G
• gnomAD v2: 15-89861894-A-G
• gnomAD v4: 15-89318663-A-G
• MyVariant Identifiers: chr15:g.89861894A>G (hg19) ; chr15:g.89318663A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318663A>G , CM000677.2:g.89318663A>G	GRCh38
NC_000015.9:g.89861894A>G , CM000677.1:g.89861894A>G	GRCh37
NC_000015.8:g.87662898A>G	NCBI36
NG_008218.1:g.21133T>C
NG_011736.1:g.79701A>G , LRG_500:g.79701A>G
NG_008218.2:g.21133T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3360T>C	ENSP00000516154.1:p.Phe1120=
ENST00000268124.11:c.3360T>C MANE Select	ENSP00000268124.5:p.Phe1120=
ENST00000530292.3:c.2961T>C	ENSP00000432885.2:p.Phe987=
ENST00000635986.2:c.*430T>C	ENSP00000490653.2:n.*430T>C
ENST00000636774.1:c.*1927T>C	ENSP00000489799.1:n.*1927T>C
ENST00000637238.1:c.2169T>C	ENSP00000490756.1:n.2169T>C
ENST00000637264.1:c.2432T>C
ENST00000666746.1:c.2937T>C
ENST00000672071.1:n.3558T>C
ENST00000672695.1:n.537T>C
ENST00000672923.2:n.3360T>C
ENST00000268124.9:c.3360T>C	ENSP00000268124.5:p.Phe1120=
ENST00000442287.6:c.3360T>C	ENSP00000399851.2:p.Phe1120=
ENST00000530292.2:c.444T>C	ENSP00000432885.1:p.Phe148=
ENST00000631044.2:c.*2784T>C	ENSP00000486730.1:n.*2784T>C
NM_001126131.1:c.3360T>C	NP_001119603.1:p.Phe1120=
NM_002693.2:c.3360T>C	NP_002684.1:p.Phe1120=
NM_001126131.2:c.3360T>C	NP_001119603.1:p.Phe1120=
NM_002693.3:c.3360T>C MANE Select	NP_002684.1:p.Phe1120=