Canonical Allele Identifier: CA393754760

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89865076T>G (hg19) ; chr15:g.89321845T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89321845T>G , CM000677.2:g.89321845T>G	GRCh38
NC_000015.9:g.89865076T>G , CM000677.1:g.89865076T>G	GRCh37
NC_000015.8:g.87666080T>G	NCBI36
NG_008218.1:g.17951A>C
NG_008218.2:g.17951A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2489A>C	ENSP00000516154.1:p.Asp830Ala
ENST00000268124.11:c.2489A>C MANE Select	ENSP00000268124.5:p.Asp830Ala
ENST00000530292.3:c.2090A>C	ENSP00000432885.2:p.Asp697Ala
ENST00000635986.2:c.2489A>C	ENSP00000490653.2:p.Asp830Ala
ENST00000636774.1:c.*1056A>C	ENSP00000489799.1:n.*1056A>C
ENST00000637238.1:c.1186A>C	ENSP00000490756.1:n.1186A>C
ENST00000637264.1:c.1561A>C
ENST00000666746.1:c.2066A>C
ENST00000670281.1:c.800+117A>C	ENSP00000499709.1:n.800+117A>C
ENST00000672071.1:n.2687A>C
ENST00000672923.2:n.2431A>C
ENST00000268124.9:c.2489A>C	ENSP00000268124.5:p.Asp830Ala
ENST00000442287.6:c.2489A>C	ENSP00000399851.2:p.Asp830Ala
ENST00000528881.2:c.196-585A>C
ENST00000530715.5:c.185+897A>C	ENSP00000431395.1:n.185+897A>C
ENST00000532584.5:n.638A>C
ENST00000631044.2:c.*1913A>C	ENSP00000486730.1:n.*1913A>C
NM_001126131.1:c.2489A>C	NP_001119603.1:p.Asp830Ala
NM_002693.2:c.2489A>C	NP_002684.1:p.Asp830Ala
NM_001126131.2:c.2489A>C	NP_001119603.1:p.Asp830Ala
NM_002693.3:c.2489A>C MANE Select	NP_002684.1:p.Asp830Ala