Canonical Allele Identifier: CA393753288

Gene: POLG

Linked Data

• dbSNP Id: rs1412460528
• gnomAD v4: 15-89320995-A-G
• MyVariant Identifiers: chr15:g.89864226A>G (hg19) ; chr15:g.89320995A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89320995A>G , CM000677.2:g.89320995A>G	GRCh38
NC_000015.9:g.89864226A>G , CM000677.1:g.89864226A>G	GRCh37
NC_000015.8:g.87665230A>G	NCBI36
NG_008218.1:g.18801T>C
NG_008218.2:g.18801T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2752T>C	ENSP00000516154.1:p.Trp918Arg
ENST00000268124.11:c.2752T>C MANE Select	ENSP00000268124.5:p.Trp918Arg
ENST00000530292.3:c.2353T>C	ENSP00000432885.2:p.Trp785Arg
ENST00000635986.2:c.2752T>C	ENSP00000490653.2:p.Trp918Arg
ENST00000636774.1:c.*1319T>C	ENSP00000489799.1:n.*1319T>C
ENST00000637238.1:c.1561T>C	ENSP00000490756.1:n.1561T>C
ENST00000637264.1:c.1824T>C
ENST00000666746.1:c.2329T>C
ENST00000670281.1:c.800+967T>C	ENSP00000499709.1:n.800+967T>C
ENST00000672071.1:n.2950T>C
ENST00000672923.2:n.2694T>C
ENST00000268124.9:c.2752T>C	ENSP00000268124.5:p.Trp918Arg
ENST00000442287.6:c.2752T>C	ENSP00000399851.2:p.Trp918Arg
ENST00000528881.2:c.349T>C
ENST00000530715.5:c.186-126T>C	ENSP00000431395.1:n.186-126T>C
ENST00000631044.2:c.*2176T>C	ENSP00000486730.1:n.*2176T>C
NM_001126131.1:c.2752T>C	NP_001119603.1:p.Trp918Arg
NM_002693.2:c.2752T>C	NP_002684.1:p.Trp918Arg
NM_001126131.2:c.2752T>C	NP_001119603.1:p.Trp918Arg
NM_002693.3:c.2752T>C MANE Select	NP_002684.1:p.Trp918Arg