Canonical Allele Identifier: CA393754565

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89865047T>G (hg19) ; chr15:g.89321816T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89321816T>G , CM000677.2:g.89321816T>G	GRCh38
NC_000015.9:g.89865047T>G , CM000677.1:g.89865047T>G	GRCh37
NC_000015.8:g.87666051T>G	NCBI36
NG_008218.1:g.17980A>C
NG_008218.2:g.17980A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2518A>C	ENSP00000516154.1:p.Ile840Leu
ENST00000268124.11:c.2518A>C MANE Select	ENSP00000268124.5:p.Ile840Leu
ENST00000530292.3:c.2119A>C	ENSP00000432885.2:p.Ile707Leu
ENST00000635986.2:c.2518A>C	ENSP00000490653.2:p.Ile840Leu
ENST00000636774.1:c.*1085A>C	ENSP00000489799.1:n.*1085A>C
ENST00000637238.1:c.1215A>C	ENSP00000490756.1:n.1215A>C
ENST00000637264.1:c.1590A>C
ENST00000666746.1:c.2095A>C
ENST00000670281.1:c.800+146A>C	ENSP00000499709.1:n.800+146A>C
ENST00000672071.1:n.2716A>C
ENST00000672923.2:n.2460A>C
ENST00000268124.9:c.2518A>C	ENSP00000268124.5:p.Ile840Leu
ENST00000442287.6:c.2518A>C	ENSP00000399851.2:p.Ile840Leu
ENST00000528881.2:c.196-556A>C
ENST00000530715.5:c.185+926A>C	ENSP00000431395.1:n.185+926A>C
ENST00000532584.5:n.667A>C
ENST00000631044.2:c.*1942A>C	ENSP00000486730.1:n.*1942A>C
NM_001126131.1:c.2518A>C	NP_001119603.1:p.Ile840Leu
NM_002693.2:c.2518A>C	NP_002684.1:p.Ile840Leu
NM_001126131.2:c.2518A>C	NP_001119603.1:p.Ile840Leu
NM_002693.3:c.2518A>C MANE Select	NP_002684.1:p.Ile840Leu