Canonical Allele Identifier: CA393766174

Gene: POLG

Linked Data

• ClinVar Variation Id: 1480448
• ClinVar RCV Id: RCV002022069
• dbSNP Id: rs2152068187
• MyVariant Identifiers: chr15:g.89872332T>G (hg19) ; chr15:g.89329101T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89329101T>G , CM000677.2:g.89329101T>G	GRCh38
NC_000015.9:g.89872332T>G , CM000677.1:g.89872332T>G	GRCh37
NC_000015.8:g.87673336T>G	NCBI36
NG_008218.1:g.10695A>C
NG_008218.2:g.10695A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.865A>C	ENSP00000516154.1:p.Met289Leu
ENST00000268124.11:c.865A>C MANE Select	ENSP00000268124.5:p.Met289Leu
ENST00000530292.3:c.466A>C	ENSP00000432885.2:p.Met156Leu
ENST00000635986.2:c.865A>C	ENSP00000490653.2:p.Met289Leu
ENST00000636774.1:c.865A>C	ENSP00000489799.1:p.Met289Leu
ENST00000666746.1:c.522A>C
ENST00000672071.1:n.1063A>C
ENST00000268124.9:c.865A>C	ENSP00000268124.5:p.Met289Leu
ENST00000442287.6:c.865A>C	ENSP00000399851.2:p.Met289Leu
ENST00000631044.2:c.*248A>C	ENSP00000486730.1:n.*248A>C
NM_001126131.1:c.865A>C	NP_001119603.1:p.Met289Leu
NM_002693.2:c.865A>C	NP_002684.1:p.Met289Leu
NM_001126131.2:c.865A>C	NP_001119603.1:p.Met289Leu
NM_002693.3:c.865A>C MANE Select	NP_002684.1:p.Met289Leu