Canonical Allele Identifier: CA393747755

Gene: POLG

Linked Data

• gnomAD v4: 15-89317480-A-G
• MyVariant Identifiers: chr15:g.89860711A>G (hg19) ; chr15:g.89317480A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317480A>G , CM000677.2:g.89317480A>G	GRCh38
NC_000015.9:g.89860711A>G , CM000677.1:g.89860711A>G	GRCh37
NC_000015.8:g.87661715A>G	NCBI36
NG_008218.1:g.22316T>C
NG_011736.1:g.78518A>G , LRG_500:g.78518A>G
NG_008218.2:g.22316T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3539T>C	ENSP00000516154.1:p.Phe1180Ser
ENST00000268124.11:c.3539T>C MANE Select	ENSP00000268124.5:p.Phe1180Ser
ENST00000530292.3:c.3239T>C	ENSP00000432885.2:n.3239T>C
ENST00000635986.2:c.*609T>C	ENSP00000490653.2:n.*609T>C
ENST00000636774.1:c.*2143T>C	ENSP00000489799.1:n.*2143T>C
ENST00000637042.1:n.72-9T>C
ENST00000637238.1:c.2447T>C	ENSP00000490756.1:n.2447T>C
ENST00000637264.1:c.2555-4T>C
ENST00000666746.1:c.3116T>C
ENST00000672071.1:n.4741T>C
ENST00000672695.1:n.1318T>C
ENST00000672923.2:n.3539T>C
ENST00000268124.9:c.3539T>C	ENSP00000268124.5:p.Phe1180Ser
ENST00000442287.6:c.3539T>C	ENSP00000399851.2:p.Phe1180Ser
ENST00000526671.1:n.349T>C
ENST00000530292.2:c.722T>C	ENSP00000432885.1:n.722T>C
ENST00000631044.2:c.*2963T>C	ENSP00000486730.1:n.*2963T>C
NM_001126131.1:c.3539T>C	NP_001119603.1:p.Phe1180Ser
NM_002693.2:c.3539T>C	NP_002684.1:p.Phe1180Ser
NM_001126131.2:c.3539T>C	NP_001119603.1:p.Phe1180Ser
NM_002693.3:c.3539T>C MANE Select	NP_002684.1:p.Phe1180Ser