Canonical Allele Identifier: CA393747911

Gene: POLG

Linked Data

• ClinVar Variation Id: 1395440
• ClinVar RCV Id: RCV001891382
• dbSNP Id: rs762019809
• MyVariant Identifiers: chr15:g.89860730G>C (hg19) ; chr15:g.89317499G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317499G>C , CM000677.2:g.89317499G>C	GRCh38
NC_000015.9:g.89860730G>C , CM000677.1:g.89860730G>C	GRCh37
NC_000015.8:g.87661734G>C	NCBI36
NG_008218.1:g.22297C>G
NG_011736.1:g.78537G>C , LRG_500:g.78537G>C
NG_008218.2:g.22297C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3520C>G	ENSP00000516154.1:p.Pro1174Ala
ENST00000268124.11:c.3520C>G MANE Select	ENSP00000268124.5:p.Pro1174Ala
ENST00000530292.3:c.3220C>G	ENSP00000432885.2:n.3220C>G
ENST00000635986.2:c.*590C>G	ENSP00000490653.2:n.*590C>G
ENST00000636774.1:c.*2124C>G	ENSP00000489799.1:n.*2124C>G
ENST00000637042.1:n.72-28C>G
ENST00000637238.1:c.2428C>G	ENSP00000490756.1:n.2428C>G
ENST00000637264.1:c.2555-23C>G
ENST00000666746.1:c.3097C>G
ENST00000672071.1:n.4722C>G
ENST00000672695.1:n.1299C>G
ENST00000672923.2:n.3520C>G
ENST00000268124.9:c.3520C>G	ENSP00000268124.5:p.Pro1174Ala
ENST00000442287.6:c.3520C>G	ENSP00000399851.2:p.Pro1174Ala
ENST00000526671.1:n.330C>G
ENST00000530292.2:c.703C>G	ENSP00000432885.1:n.703C>G
ENST00000631044.2:c.*2944C>G	ENSP00000486730.1:n.*2944C>G
NM_001126131.1:c.3520C>G	NP_001119603.1:p.Pro1174Ala
NM_002693.2:c.3520C>G	NP_002684.1:p.Pro1174Ala
NM_001126131.2:c.3520C>G	NP_001119603.1:p.Pro1174Ala
NM_002693.3:c.3520C>G MANE Select	NP_002684.1:p.Pro1174Ala