Canonical Allele Identifier: CA7724341

Gene: POLG

Linked Data

• ClinVar Variation Id: 1095603
• ClinVar RCV Id: RCV001416519 ; RCV001569620
• dbSNP Id: rs774005462
• ExAC: 15:89864149 A / G
• gnomAD v2: 15-89864149-A-G
• gnomAD v4: 15-89320918-A-G
• MyVariant Identifiers: chr15:g.89864149A>G (hg19) ; chr15:g.89320918A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89320918A>G , CM000677.2:g.89320918A>G	GRCh38
NC_000015.9:g.89864149A>G , CM000677.1:g.89864149A>G	GRCh37
NC_000015.8:g.87665153A>G	NCBI36
NG_008218.1:g.18878T>C
NG_008218.2:g.18878T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2829T>C	ENSP00000516154.1:p.Arg943=
ENST00000268124.11:c.2829T>C MANE Select	ENSP00000268124.5:p.Arg943=
ENST00000530292.3:c.2430T>C	ENSP00000432885.2:p.Arg810=
ENST00000635986.2:c.2829T>C	ENSP00000490653.2:p.Arg943=
ENST00000636774.1:c.*1396T>C	ENSP00000489799.1:n.*1396T>C
ENST00000637238.1:c.1638T>C	ENSP00000490756.1:n.1638T>C
ENST00000637264.1:c.1901T>C
ENST00000666746.1:c.2406T>C
ENST00000670281.1:c.800+1044T>C	ENSP00000499709.1:n.800+1044T>C
ENST00000672071.1:n.3027T>C
ENST00000672695.1:n.6T>C
ENST00000672923.2:n.2771T>C
ENST00000268124.9:c.2829T>C	ENSP00000268124.5:p.Arg943=
ENST00000442287.6:c.2829T>C	ENSP00000399851.2:p.Arg943=
ENST00000528881.2:c.426T>C
ENST00000530715.5:c.186-49T>C	ENSP00000431395.1:n.186-49T>C
ENST00000631044.2:c.*2253T>C	ENSP00000486730.1:n.*2253T>C
NM_001126131.1:c.2829T>C	NP_001119603.1:p.Arg943=
NM_002693.2:c.2829T>C	NP_002684.1:p.Arg943=
NM_001126131.2:c.2829T>C	NP_001119603.1:p.Arg943=
NM_002693.3:c.2829T>C MANE Select	NP_002684.1:p.Arg943=