Canonical Allele Identifier: CA288989

Gene: POLG

Linked Data

• ClinVar Variation Id: 129997
• ClinVar RCV Id: RCV000118020 ; RCV000388497 ; RCV000474604 ; RCV000857934 ; RCV002312231 ; RCV001753496
• dbSNP Id: rs62640037
• ExAC: 15:89860689 C / G
• gnomAD v2: 15-89860689-C-G
• gnomAD v3: 15-89317458-C-G
• gnomAD v4: 15-89317458-C-G
• MyVariant Identifiers: chr15:g.89860689C>G (hg19) ; chr15:g.89317458C>G (hg38)
• ERepo: CA288989/MONDO:0044970/014

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317458C>G , CM000677.2:g.89317458C>G	GRCh38
NC_000015.9:g.89860689C>G , CM000677.1:g.89860689C>G	GRCh37
NC_000015.8:g.87661693C>G	NCBI36
NG_008218.1:g.22338G>C
NG_011736.1:g.78496C>G , LRG_500:g.78496C>G
NG_008218.2:g.22338G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3561G>C	ENSP00000516154.1:p.Arg1187=
ENST00000268124.11:c.3561G>C MANE Select	ENSP00000268124.5:p.Arg1187=
ENST00000530292.3:c.3261G>C	ENSP00000432885.2:n.3261G>C
ENST00000635986.2:c.*631G>C	ENSP00000490653.2:n.*631G>C
ENST00000636774.1:c.*2165G>C	ENSP00000489799.1:n.*2165G>C
ENST00000637042.1:n.85G>C
ENST00000637238.1:c.2469G>C	ENSP00000490756.1:n.2469G>C
ENST00000637264.1:c.2573G>C
ENST00000666746.1:c.3138G>C
ENST00000672071.1:n.4763G>C
ENST00000672695.1:n.1340G>C
ENST00000672923.2:n.3561G>C
ENST00000268124.9:c.3561G>C	ENSP00000268124.5:p.Arg1187=
ENST00000442287.6:c.3561G>C	ENSP00000399851.2:p.Arg1187=
ENST00000526671.1:n.371G>C
ENST00000530292.2:c.744G>C	ENSP00000432885.1:n.744G>C
ENST00000631044.2:c.*2985G>C	ENSP00000486730.1:n.*2985G>C
NM_001126131.1:c.3561G>C	NP_001119603.1:p.Arg1187=
NM_002693.2:c.3561G>C	NP_002684.1:p.Arg1187=
NM_001126131.2:c.3561G>C	NP_001119603.1:p.Arg1187=
NM_002693.3:c.3561G>C MANE Select	NP_002684.1:p.Arg1187=