Canonical Allele Identifier: CA393756643

Gene: POLG

Linked Data

• ClinVar Variation Id: 1017643
• ClinVar RCV Id: RCV001316822 ; RCV001796438 ; RCV002486247
• dbSNP Id: rs2055426653
• MyVariant Identifiers: chr15:g.89866645A>G (hg19) ; chr15:g.89323414A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323414A>G , CM000677.2:g.89323414A>G	GRCh38
NC_000015.9:g.89866645A>G , CM000677.1:g.89866645A>G	GRCh37
NC_000015.8:g.87667649A>G	NCBI36
NG_008218.1:g.16382T>C
NG_008218.2:g.16382T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2255T>C	ENSP00000516154.1:p.Leu752Pro
ENST00000268124.11:c.2255T>C MANE Select	ENSP00000268124.5:p.Leu752Pro
ENST00000530292.3:c.1856T>C	ENSP00000432885.2:p.Leu619Pro
ENST00000635986.2:c.2255T>C	ENSP00000490653.2:p.Leu752Pro
ENST00000636774.1:c.*822T>C	ENSP00000489799.1:n.*822T>C
ENST00000637238.1:c.952T>C	ENSP00000490756.1:n.952T>C
ENST00000637264.1:c.1327T>C
ENST00000666746.1:c.1832T>C
ENST00000670281.1:c.575T>C	ENSP00000499709.1:p.Leu192Pro
ENST00000672071.1:n.2453T>C
ENST00000672923.2:n.2358T>C
ENST00000268124.9:c.2255T>C	ENSP00000268124.5:p.Leu752Pro
ENST00000442287.6:c.2255T>C	ENSP00000399851.2:p.Leu752Pro
ENST00000526314.2:c.539+401T>C
ENST00000526398.1:c.404T>C
ENST00000528881.2:c.24T>C
ENST00000530715.5:c.14T>C	ENSP00000431395.1:p.Leu5Pro
ENST00000532584.5:n.457T>C
ENST00000631044.2:c.*1679T>C	ENSP00000486730.1:n.*1679T>C
NM_001126131.1:c.2255T>C	NP_001119603.1:p.Leu752Pro
NM_002693.2:c.2255T>C	NP_002684.1:p.Leu752Pro
NM_001126131.2:c.2255T>C	NP_001119603.1:p.Leu752Pro
NM_002693.3:c.2255T>C MANE Select	NP_002684.1:p.Leu752Pro