Canonical Allele Identifier: CA393749945

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89861917G>A (hg19) ; chr15:g.89318686G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318686G>A , CM000677.2:g.89318686G>A	GRCh38
NC_000015.9:g.89861917G>A , CM000677.1:g.89861917G>A	GRCh37
NC_000015.8:g.87662921G>A	NCBI36
NG_008218.1:g.21110C>T
NG_011736.1:g.79724G>A , LRG_500:g.79724G>A
NG_008218.2:g.21110C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3337C>T	ENSP00000516154.1:p.Leu1113Phe
ENST00000268124.11:c.3337C>T MANE Select	ENSP00000268124.5:p.Leu1113Phe
ENST00000530292.3:c.2938C>T	ENSP00000432885.2:p.Leu980Phe
ENST00000635986.2:c.*407C>T	ENSP00000490653.2:n.*407C>T
ENST00000636774.1:c.*1904C>T	ENSP00000489799.1:n.*1904C>T
ENST00000637238.1:c.2146C>T	ENSP00000490756.1:n.2146C>T
ENST00000637264.1:c.2409C>T
ENST00000666746.1:c.2914C>T
ENST00000672071.1:n.3535C>T
ENST00000672695.1:n.514C>T
ENST00000672923.2:n.3337C>T
ENST00000268124.9:c.3337C>T	ENSP00000268124.5:p.Leu1113Phe
ENST00000442287.6:c.3337C>T	ENSP00000399851.2:p.Leu1113Phe
ENST00000530292.2:c.421C>T	ENSP00000432885.1:p.Leu141Phe
ENST00000631044.2:c.*2761C>T	ENSP00000486730.1:n.*2761C>T
NM_001126131.1:c.3337C>T	NP_001119603.1:p.Leu1113Phe
NM_002693.2:c.3337C>T	NP_002684.1:p.Leu1113Phe
NM_001126131.2:c.3337C>T	NP_001119603.1:p.Leu1113Phe
NM_002693.3:c.3337C>T MANE Select	NP_002684.1:p.Leu1113Phe