Canonical Allele Identifier: CA393751160

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89862311C>T (hg19) ; chr15:g.89319080C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89319080C>T , CM000677.2:g.89319080C>T	GRCh38
NC_000015.9:g.89862311C>T , CM000677.1:g.89862311C>T	GRCh37
NC_000015.8:g.87663315C>T	NCBI36
NG_008218.1:g.20716G>A
NG_011736.1:g.80118C>T , LRG_500:g.80118C>T
NG_008218.2:g.20716G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.3124G>A	ENSP00000516154.1:p.Glu1042Lys
ENST00000268124.11:c.3124G>A MANE Select	ENSP00000268124.5:p.Glu1042Lys
ENST00000530292.3:c.2725G>A	ENSP00000432885.2:p.Glu909Lys
ENST00000635986.2:c.*194G>A	ENSP00000490653.2:n.*194G>A
ENST00000636530.1:n.84G>A
ENST00000636774.1:c.*1691G>A	ENSP00000489799.1:n.*1691G>A
ENST00000637238.1:c.1933G>A	ENSP00000490756.1:n.1933G>A
ENST00000637264.1:c.2196G>A
ENST00000666746.1:c.2701G>A
ENST00000672071.1:n.3322G>A
ENST00000672695.1:n.301G>A
ENST00000672923.2:n.3124G>A
ENST00000268124.9:c.3124G>A	ENSP00000268124.5:p.Glu1042Lys
ENST00000442287.6:c.3124G>A	ENSP00000399851.2:p.Glu1042Lys
ENST00000530292.2:c.208G>A	ENSP00000432885.1:p.Glu70Lys
ENST00000631044.2:c.*2548G>A	ENSP00000486730.1:n.*2548G>A
NM_001126131.1:c.3124G>A	NP_001119603.1:p.Glu1042Lys
NM_002693.2:c.3124G>A	NP_002684.1:p.Glu1042Lys
NM_001126131.2:c.3124G>A	NP_001119603.1:p.Glu1042Lys
NM_002693.3:c.3124G>A MANE Select	NP_002684.1:p.Glu1042Lys