Canonical Allele Identifier: CA393750166

Gene: POLG

Linked Data

• ClinVar Variation Id: 982887
• ClinVar RCV Id: RCV001262612
• dbSNP Id: rs2055345819
• MyVariant Identifiers: chr15:g.89861958C>T (hg19) ; chr15:g.89318727C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318727C>T , CM000677.2:g.89318727C>T	GRCh38
NC_000015.9:g.89861958C>T , CM000677.1:g.89861958C>T	GRCh37
NC_000015.8:g.87662962C>T	NCBI36
NG_008218.1:g.21069G>A
NG_011736.1:g.79765C>T , LRG_500:g.79765C>T
NG_008218.2:g.21069G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3296G>A	ENSP00000516154.1:p.Trp1099Ter
ENST00000268124.11:c.3296G>A MANE Select	ENSP00000268124.5:p.Trp1099Ter
ENST00000530292.3:c.2897G>A	ENSP00000432885.2:p.Trp966Ter
ENST00000635986.2:c.*366G>A	ENSP00000490653.2:n.*366G>A
ENST00000636774.1:c.*1863G>A	ENSP00000489799.1:n.*1863G>A
ENST00000637238.1:c.2105G>A	ENSP00000490756.1:n.2105G>A
ENST00000637264.1:c.2368G>A
ENST00000666746.1:c.2873G>A
ENST00000672071.1:n.3494G>A
ENST00000672695.1:n.473G>A
ENST00000672923.2:n.3296G>A
ENST00000268124.9:c.3296G>A	ENSP00000268124.5:p.Trp1099Ter
ENST00000442287.6:c.3296G>A	ENSP00000399851.2:p.Trp1099Ter
ENST00000530292.2:c.380G>A	ENSP00000432885.1:p.Trp127Ter
ENST00000631044.2:c.*2720G>A	ENSP00000486730.1:n.*2720G>A
NM_001126131.1:c.3296G>A	NP_001119603.1:p.Trp1099Ter
NM_002693.2:c.3296G>A	NP_002684.1:p.Trp1099Ter
NM_001126131.2:c.3296G>A	NP_001119603.1:p.Trp1099Ter
NM_002693.3:c.3296G>A MANE Select	NP_002684.1:p.Trp1099Ter