Canonical Allele Identifier: CA393751170

Gene: POLG

Linked Data

• gnomAD v4: 15-89319082-C-T
• MyVariant Identifiers: chr15:g.89862313C>T (hg19) ; chr15:g.89319082C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89319082C>T , CM000677.2:g.89319082C>T	GRCh38
NC_000015.9:g.89862313C>T , CM000677.1:g.89862313C>T	GRCh37
NC_000015.8:g.87663317C>T	NCBI36
NG_008218.1:g.20714G>A
NG_011736.1:g.80120C>T , LRG_500:g.80120C>T
NG_008218.2:g.20714G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3122G>A	ENSP00000516154.1:p.Trp1041Ter
ENST00000268124.11:c.3122G>A MANE Select	ENSP00000268124.5:p.Trp1041Ter
ENST00000530292.3:c.2723G>A	ENSP00000432885.2:p.Trp908Ter
ENST00000635986.2:c.*192G>A	ENSP00000490653.2:n.*192G>A
ENST00000636530.1:n.82G>A
ENST00000636774.1:c.*1689G>A	ENSP00000489799.1:n.*1689G>A
ENST00000637238.1:c.1931G>A	ENSP00000490756.1:n.1931G>A
ENST00000637264.1:c.2194G>A
ENST00000666746.1:c.2699G>A
ENST00000672071.1:n.3320G>A
ENST00000672695.1:n.299G>A
ENST00000672923.2:n.3122G>A
ENST00000268124.9:c.3122G>A	ENSP00000268124.5:p.Trp1041Ter
ENST00000442287.6:c.3122G>A	ENSP00000399851.2:p.Trp1041Ter
ENST00000530292.2:c.206G>A	ENSP00000432885.1:p.Trp69Ter
ENST00000631044.2:c.*2546G>A	ENSP00000486730.1:n.*2546G>A
NM_001126131.1:c.3122G>A	NP_001119603.1:p.Trp1041Ter
NM_002693.2:c.3122G>A	NP_002684.1:p.Trp1041Ter
NM_001126131.2:c.3122G>A	NP_001119603.1:p.Trp1041Ter
NM_002693.3:c.3122G>A MANE Select	NP_002684.1:p.Trp1041Ter