Canonical Allele Identifier: CA492070729

Gene: POLG

Linked Data

• ClinVar Variation Id: 2818182
• ClinVar RCV Id: RCV003627933
• dbSNP Id: rs1060504039
• gnomAD v2: 15-89860719-G-C
• gnomAD v3: 15-89317488-G-C
• gnomAD v4: 15-89317488-G-C
• MyVariant Identifiers: chr15:g.89860719G>C (hg19) ; chr15:g.89317488G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317488G>C , CM000677.2:g.89317488G>C	GRCh38
NC_000015.9:g.89860719G>C , CM000677.1:g.89860719G>C	GRCh37
NC_000015.8:g.87661723G>C	NCBI36
NG_008218.1:g.22308C>G
NG_011736.1:g.78526G>C , LRG_500:g.78526G>C
NG_008218.2:g.22308C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3531C>G	ENSP00000516154.1:p.Val1177=
ENST00000268124.11:c.3531C>G MANE Select	ENSP00000268124.5:p.Val1177=
ENST00000530292.3:c.3231C>G	ENSP00000432885.2:n.3231C>G
ENST00000635986.2:c.*601C>G	ENSP00000490653.2:n.*601C>G
ENST00000636774.1:c.*2135C>G	ENSP00000489799.1:n.*2135C>G
ENST00000637042.1:n.72-17C>G
ENST00000637238.1:c.2439C>G	ENSP00000490756.1:n.2439C>G
ENST00000637264.1:c.2555-12C>G
ENST00000666746.1:c.3108C>G
ENST00000672071.1:n.4733C>G
ENST00000672695.1:n.1310C>G
ENST00000672923.2:n.3531C>G
ENST00000268124.9:c.3531C>G	ENSP00000268124.5:p.Val1177=
ENST00000442287.6:c.3531C>G	ENSP00000399851.2:p.Val1177=
ENST00000526671.1:n.341C>G
ENST00000530292.2:c.714C>G	ENSP00000432885.1:n.714C>G
ENST00000631044.2:c.*2955C>G	ENSP00000486730.1:n.*2955C>G
NM_001126131.1:c.3531C>G	NP_001119603.1:p.Val1177=
NM_002693.2:c.3531C>G	NP_002684.1:p.Val1177=
NM_001126131.2:c.3531C>G	NP_001119603.1:p.Val1177=
NM_002693.3:c.3531C>G MANE Select	NP_002684.1:p.Val1177=