Canonical Allele Identifier: CA393748014

Gene: POLG

Linked Data

• ClinVar Variation Id: 586361
• ClinVar RCV Id: RCV000712804 ; RCV002532938
• dbSNP Id: rs1567184138
• COSMIC: COSM5971589
• MyVariant Identifiers: chr15:g.89860739T>G (hg19) ; chr15:g.89317508T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317508T>G , CM000677.2:g.89317508T>G	GRCh38
NC_000015.9:g.89860739T>G , CM000677.1:g.89860739T>G	GRCh37
NC_000015.8:g.87661743T>G	NCBI36
NG_008218.1:g.22288A>C
NG_011736.1:g.78546T>G , LRG_500:g.78546T>G
NG_008218.2:g.22288A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3511A>C	ENSP00000516154.1:p.Asn1171His
ENST00000268124.11:c.3511A>C MANE Select	ENSP00000268124.5:p.Asn1171His
ENST00000530292.3:c.3211A>C	ENSP00000432885.2:n.3211A>C
ENST00000635986.2:c.*581A>C	ENSP00000490653.2:n.*581A>C
ENST00000636774.1:c.*2115A>C	ENSP00000489799.1:n.*2115A>C
ENST00000637042.1:n.72-37A>C
ENST00000637238.1:c.2419A>C	ENSP00000490756.1:n.2419A>C
ENST00000637264.1:c.2555-32A>C
ENST00000666746.1:c.3088A>C
ENST00000672071.1:n.4713A>C
ENST00000672695.1:n.1290A>C
ENST00000672923.2:n.3511A>C
ENST00000268124.9:c.3511A>C	ENSP00000268124.5:p.Asn1171His
ENST00000442287.6:c.3511A>C	ENSP00000399851.2:p.Asn1171His
ENST00000526671.1:n.321A>C
ENST00000530292.2:c.694A>C	ENSP00000432885.1:n.694A>C
ENST00000631044.2:c.*2935A>C	ENSP00000486730.1:n.*2935A>C
NM_001126131.1:c.3511A>C	NP_001119603.1:p.Asn1171His
NM_002693.2:c.3511A>C	NP_002684.1:p.Asn1171His
NM_001126131.2:c.3511A>C	NP_001119603.1:p.Asn1171His
NM_002693.3:c.3511A>C MANE Select	NP_002684.1:p.Asn1171His