Canonical Allele Identifier: CA16620023

Gene: POLG

Linked Data

• ClinVar Variation Id: 423488
• ClinVar RCV Id: RCV000633550 ; RCV000486915
• dbSNP Id: rs1064796458
• gnomAD v3: 15-89325604-T-G
• gnomAD v4: 15-89325604-T-G
• MyVariant Identifiers: chr15:g.89868835T>G (hg19) ; chr15:g.89325604T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325604T>G , CM000677.2:g.89325604T>G	GRCh38
NC_000015.9:g.89868835T>G , CM000677.1:g.89868835T>G	GRCh37
NC_000015.8:g.87669839T>G	NCBI36
NG_008218.1:g.14192A>C
NG_008218.2:g.14192A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1795A>C	ENSP00000516154.1:p.Thr599Pro
ENST00000268124.11:c.1795A>C MANE Select	ENSP00000268124.5:p.Thr599Pro
ENST00000530292.3:c.1396A>C	ENSP00000432885.2:p.Thr466Pro
ENST00000635986.2:c.1795A>C	ENSP00000490653.2:p.Thr599Pro
ENST00000636774.1:c.*362A>C	ENSP00000489799.1:n.*362A>C
ENST00000637238.1:c.532A>C	ENSP00000490756.1:p.Thr178Pro
ENST00000637264.1:c.867A>C
ENST00000666746.1:c.1372A>C
ENST00000670281.1:c.115A>C	ENSP00000499709.1:p.Thr39Pro
ENST00000672071.1:n.1993A>C
ENST00000672923.2:n.1898A>C
ENST00000268124.9:c.1795A>C	ENSP00000268124.5:p.Thr599Pro
ENST00000442287.6:c.1795A>C	ENSP00000399851.2:p.Thr599Pro
ENST00000526314.2:c.177A>C
ENST00000631044.2:c.*1178A>C	ENSP00000486730.1:n.*1178A>C
NM_001126131.1:c.1795A>C	NP_001119603.1:p.Thr599Pro
NM_002693.2:c.1795A>C	NP_002684.1:p.Thr599Pro
NM_001126131.2:c.1795A>C	NP_001119603.1:p.Thr599Pro
NM_002693.3:c.1795A>C MANE Select	NP_002684.1:p.Thr599Pro