Canonical Allele Identifier: CA316738

Gene: POLG

Linked Data

• ClinVar Variation Id: 206547
• ClinVar RCV Id: RCV000188601
• dbSNP Id: rs796052894
• gnomAD v2: 15-89862313-C-G
• gnomAD v3: 15-89319082-C-G
• gnomAD v4: 15-89319082-C-G
• MyVariant Identifiers: chr15:g.89862313C>G (hg19) ; chr15:g.89319082C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3122G>C	ENSP00000516154.1:p.Trp1041Ser
ENST00000268124.11:c.3122G>C MANE Select	ENSP00000268124.5:p.Trp1041Ser
ENST00000530292.3:c.2723G>C	ENSP00000432885.2:p.Trp908Ser
ENST00000635986.2:c.*192G>C	ENSP00000490653.2:n.*192G>C
ENST00000636530.1:n.82G>C
ENST00000636774.1:c.*1689G>C	ENSP00000489799.1:n.*1689G>C
ENST00000637238.1:c.1931G>C	ENSP00000490756.1:n.1931G>C
ENST00000637264.1:c.2194G>C
ENST00000666746.1:c.2699G>C
ENST00000672071.1:n.3320G>C
ENST00000672695.1:n.299G>C
ENST00000672923.2:n.3122G>C
ENST00000268124.9:c.3122G>C	ENSP00000268124.5:p.Trp1041Ser
ENST00000442287.6:c.3122G>C	ENSP00000399851.2:p.Trp1041Ser
ENST00000530292.2:c.206G>C	ENSP00000432885.1:p.Trp69Ser
ENST00000631044.2:c.*2546G>C	ENSP00000486730.1:n.*2546G>C
NM_001126131.1:c.3122G>C	NP_001119603.1:p.Trp1041Ser
NM_002693.2:c.3122G>C	NP_002684.1:p.Trp1041Ser
NM_001126131.2:c.3122G>C	NP_001119603.1:p.Trp1041Ser
NM_002693.3:c.3122G>C MANE Select	NP_002684.1:p.Trp1041Ser