Canonical Allele Identifier: CA393756952

Gene: POLG

Linked Data

• ClinVar Variation Id: 886954
• ClinVar RCV Id: RCV001119422
• dbSNP Id: rs1314927216
• MyVariant Identifiers: chr15:g.89866741G>C (hg19) ; chr15:g.89323510G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323510G>C , CM000677.2:g.89323510G>C	GRCh38
NC_000015.9:g.89866741G>C , CM000677.1:g.89866741G>C	GRCh37
NC_000015.8:g.87667745G>C	NCBI36
NG_008218.1:g.16286C>G
NG_008218.2:g.16286C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2159C>G	ENSP00000516154.1:p.Thr720Ser
ENST00000268124.11:c.2159C>G MANE Select	ENSP00000268124.5:p.Thr720Ser
ENST00000530292.3:c.1760C>G	ENSP00000432885.2:p.Thr587Ser
ENST00000635986.2:c.2159C>G	ENSP00000490653.2:p.Thr720Ser
ENST00000636774.1:c.*726C>G	ENSP00000489799.1:n.*726C>G
ENST00000637238.1:c.856C>G	ENSP00000490756.1:n.856C>G
ENST00000637264.1:c.1231C>G
ENST00000666746.1:c.1736C>G
ENST00000670281.1:c.479C>G	ENSP00000499709.1:p.Thr160Ser
ENST00000672071.1:n.2357C>G
ENST00000672923.2:n.2262C>G
ENST00000268124.9:c.2159C>G	ENSP00000268124.5:p.Thr720Ser
ENST00000442287.6:c.2159C>G	ENSP00000399851.2:p.Thr720Ser
ENST00000526314.2:c.539+305C>G
ENST00000526398.1:c.308C>G
ENST00000532584.5:n.361C>G
ENST00000631044.2:c.*1583C>G	ENSP00000486730.1:n.*1583C>G
NM_001126131.1:c.2159C>G	NP_001119603.1:p.Thr720Ser
NM_002693.2:c.2159C>G	NP_002684.1:p.Thr720Ser
NM_001126131.2:c.2159C>G	NP_001119603.1:p.Thr720Ser
NM_002693.3:c.2159C>G MANE Select	NP_002684.1:p.Thr720Ser