Canonical Allele Identifier: CA492288813

Gene: POLG

Linked Data

• ClinVar Variation Id: 2757482
• ClinVar RCV Id: RCV003515169
• MyVariant Identifiers: chr15:g.89861897C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318666C>T , CM000677.2:g.89318666C>T	GRCh38
NC_000015.9:g.89861897C>T , CM000677.1:g.89861897C>T	GRCh37
NC_000015.8:g.87662901C>T	NCBI36
NG_008218.1:g.21130G>A
NG_011736.1:g.79704C>T , LRG_500:g.79704C>T
NG_008218.2:g.21130G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3357G>A	ENSP00000516154.1:p.Leu1119=
ENST00000268124.11:c.3357G>A MANE Select	ENSP00000268124.5:p.Leu1119=
ENST00000530292.3:c.2958G>A	ENSP00000432885.2:p.Leu986=
ENST00000635986.2:c.*427G>A	ENSP00000490653.2:n.*427G>A
ENST00000636774.1:c.*1924G>A	ENSP00000489799.1:n.*1924G>A
ENST00000637238.1:c.2166G>A	ENSP00000490756.1:n.2166G>A
ENST00000637264.1:c.2429G>A
ENST00000666746.1:c.2934G>A
ENST00000672071.1:n.3555G>A
ENST00000672695.1:n.534G>A
ENST00000672923.2:n.3357G>A
ENST00000268124.9:c.3357G>A	ENSP00000268124.5:p.Leu1119=
ENST00000442287.6:c.3357G>A	ENSP00000399851.2:p.Leu1119=
ENST00000530292.2:c.441G>A	ENSP00000432885.1:p.Leu147=
ENST00000631044.2:c.*2781G>A	ENSP00000486730.1:n.*2781G>A
NM_001126131.1:c.3357G>A	NP_001119603.1:p.Leu1119=
NM_002693.2:c.3357G>A	NP_002684.1:p.Leu1119=
NM_001126131.2:c.3357G>A	NP_001119603.1:p.Leu1119=
NM_002693.3:c.3357G>A MANE Select	NP_002684.1:p.Leu1119=