Canonical Allele Identifier: CA393765832

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89872287G>T (hg19) ; chr15:g.89329056G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89329056G>T , CM000677.2:g.89329056G>T	GRCh38
NC_000015.9:g.89872287G>T , CM000677.1:g.89872287G>T	GRCh37
NC_000015.8:g.87673291G>T	NCBI36
NG_008218.1:g.10740C>A
NG_008218.2:g.10740C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.910C>A	ENSP00000516154.1:p.Leu304Ile
ENST00000268124.11:c.910C>A MANE Select	ENSP00000268124.5:p.Leu304Ile
ENST00000530292.3:c.511C>A	ENSP00000432885.2:p.Leu171Ile
ENST00000635986.2:c.910C>A	ENSP00000490653.2:p.Leu304Ile
ENST00000636774.1:c.910C>A	ENSP00000489799.1:p.Leu304Ile
ENST00000666746.1:c.567C>A
ENST00000672071.1:n.1108C>A
ENST00000268124.9:c.910C>A	ENSP00000268124.5:p.Leu304Ile
ENST00000442287.6:c.910C>A	ENSP00000399851.2:p.Leu304Ile
ENST00000631044.2:c.*293C>A	ENSP00000486730.1:n.*293C>A
NM_001126131.1:c.910C>A	NP_001119603.1:p.Leu304Ile
NM_002693.2:c.910C>A	NP_002684.1:p.Leu304Ile
NM_001126131.2:c.910C>A	NP_001119603.1:p.Leu304Ile
NM_002693.3:c.910C>A MANE Select	NP_002684.1:p.Leu304Ile