Canonical Allele Identifier: CA393749905

Gene: POLG

Linked Data

• ClinVar Variation Id: 1422596
• ClinVar RCV Id: RCV001919614 ; RCV003987938
• dbSNP Id: rs2152058721
• gnomAD v4: 15-89318667-A-G
• MyVariant Identifiers: chr15:g.89861898A>G (hg19) ; chr15:g.89318667A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318667A>G , CM000677.2:g.89318667A>G	GRCh38
NC_000015.9:g.89861898A>G , CM000677.1:g.89861898A>G	GRCh37
NC_000015.8:g.87662902A>G	NCBI36
NG_008218.1:g.21129T>C
NG_011736.1:g.79705A>G , LRG_500:g.79705A>G
NG_008218.2:g.21129T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3356T>C	ENSP00000516154.1:p.Leu1119Pro
ENST00000268124.11:c.3356T>C MANE Select	ENSP00000268124.5:p.Leu1119Pro
ENST00000530292.3:c.2957T>C	ENSP00000432885.2:p.Leu986Pro
ENST00000635986.2:c.*426T>C	ENSP00000490653.2:n.*426T>C
ENST00000636774.1:c.*1923T>C	ENSP00000489799.1:n.*1923T>C
ENST00000637238.1:c.2165T>C	ENSP00000490756.1:n.2165T>C
ENST00000637264.1:c.2428T>C
ENST00000666746.1:c.2933T>C
ENST00000672071.1:n.3554T>C
ENST00000672695.1:n.533T>C
ENST00000672923.2:n.3356T>C
ENST00000268124.9:c.3356T>C	ENSP00000268124.5:p.Leu1119Pro
ENST00000442287.6:c.3356T>C	ENSP00000399851.2:p.Leu1119Pro
ENST00000530292.2:c.440T>C	ENSP00000432885.1:p.Leu147Pro
ENST00000631044.2:c.*2780T>C	ENSP00000486730.1:n.*2780T>C
NM_001126131.1:c.3356T>C	NP_001119603.1:p.Leu1119Pro
NM_002693.2:c.3356T>C	NP_002684.1:p.Leu1119Pro
NM_001126131.2:c.3356T>C	NP_001119603.1:p.Leu1119Pro
NM_002693.3:c.3356T>C MANE Select	NP_002684.1:p.Leu1119Pro