Canonical Allele Identifier: CA316672

Gene: POLG

Linked Data

• ClinVar Variation Id: 206513
• ClinVar RCV Id: RCV000188564 ; RCV000758299 ; RCV002426911
• dbSNP Id: rs185645212
• ExAC: 15:89866735 C / A
• gnomAD v2: 15-89866735-C-A
• gnomAD v4: 15-89323504-C-A
• MyVariant Identifiers: chr15:g.89866735C>A (hg19) ; chr15:g.89323504C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323504C>A , CM000677.2:g.89323504C>A	GRCh38
NC_000015.9:g.89866735C>A , CM000677.1:g.89866735C>A	GRCh37
NC_000015.8:g.87667739C>A	NCBI36
NG_008218.1:g.16292G>T
NG_008218.2:g.16292G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2165G>T	ENSP00000516154.1:p.Arg722Leu
ENST00000268124.11:c.2165G>T MANE Select	ENSP00000268124.5:p.Arg722Leu
ENST00000530292.3:c.1766G>T	ENSP00000432885.2:p.Arg589Leu
ENST00000635986.2:c.2165G>T	ENSP00000490653.2:p.Arg722Leu
ENST00000636774.1:c.*732G>T	ENSP00000489799.1:n.*732G>T
ENST00000637238.1:c.862G>T	ENSP00000490756.1:n.862G>T
ENST00000637264.1:c.1237G>T
ENST00000666746.1:c.1742G>T
ENST00000670281.1:c.485G>T	ENSP00000499709.1:p.Arg162Leu
ENST00000672071.1:n.2363G>T
ENST00000672923.2:n.2268G>T
ENST00000268124.9:c.2165G>T	ENSP00000268124.5:p.Arg722Leu
ENST00000442287.6:c.2165G>T	ENSP00000399851.2:p.Arg722Leu
ENST00000526314.2:c.539+311G>T
ENST00000526398.1:c.314G>T
ENST00000532584.5:n.367G>T
ENST00000631044.2:c.*1589G>T	ENSP00000486730.1:n.*1589G>T
NM_001126131.1:c.2165G>T	NP_001119603.1:p.Arg722Leu
NM_002693.2:c.2165G>T	NP_002684.1:p.Arg722Leu
NM_001126131.2:c.2165G>T	NP_001119603.1:p.Arg722Leu
NM_002693.3:c.2165G>T MANE Select	NP_002684.1:p.Arg722Leu