Canonical Allele Identifier: CA2194555549

Gene: POLG MIR6766

Linked Data

• ClinVar Variation Id: 2786120
• ClinVar RCV Id: RCV003627010
• dbSNP Id: rs2055525131

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89326756G>A , CM000677.2:g.89326756G>A	GRCh38
NC_000015.9:g.89869987G>A , CM000677.1:g.89869987G>A	GRCh37
NC_000015.8:g.87670991G>A	NCBI36
NG_008218.1:g.13040C>T
NG_008218.2:g.13040C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1586-18C>T (POLG)	ENSP00000516154.1:n.1586-18C>T
ENST00000268124.11:c.1586-18C>T (POLG) MANE Select	ENSP00000268124.5:n.1586-18C>T
ENST00000530292.3:c.1187-18C>T (POLG)	ENSP00000432885.2:n.1187-18C>T
ENST00000635986.2:c.1586-18C>T (POLG)	ENSP00000490653.2:n.1586-18C>T
ENST00000636774.1:c.*153-18C>T (POLG)	ENSP00000489799.1:n.*153-18C>T
ENST00000637238.1:c.323-18C>T (POLG)	ENSP00000490756.1:n.323-18C>T
ENST00000637264.1:c.658-18C>T (POLG)
ENST00000666746.1:c.1163-18C>T (POLG)
ENST00000672071.1:n.1784-18C>T (POLG)
ENST00000672923.2:n.1689-18C>T (POLG)
ENST00000268124.9:c.1586-18C>T (POLG)	ENSP00000268124.5:n.1586-18C>T
ENST00000442287.6:c.1586-18C>T (POLG)	ENSP00000399851.2:n.1586-18C>T
ENST00000631044.2:c.*969-18C>T (POLG)	ENSP00000486730.1:n.*969-18C>T
NM_001126131.1:c.1586-18C>T (POLG)	NP_001119603.1:n.1586-18C>T
NM_002693.2:c.1586-18C>T (POLG)	NP_002684.1:n.1586-18C>T
NR_106824.1:n.55C>T (MIR6766)
NM_001126131.2:c.1586-18C>T (POLG)	NP_001119603.1:n.1586-18C>T
NM_002693.3:c.1586-18C>T (POLG) MANE Select	NP_002684.1:n.1586-18C>T