Canonical Allele Identifier: CA393762928

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89870577A>C (hg19) ; chr15:g.89327346A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89327346A>C , CM000677.2:g.89327346A>C	GRCh38
NC_000015.9:g.89870577A>C , CM000677.1:g.89870577A>C	GRCh37
NC_000015.8:g.87671581A>C	NCBI36
NG_008218.1:g.12450T>G
NG_008218.2:g.12450T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1254T>G	ENSP00000516154.1:p.Cys418Trp
ENST00000268124.11:c.1254T>G MANE Select	ENSP00000268124.5:p.Cys418Trp
ENST00000530292.3:c.855T>G	ENSP00000432885.2:p.Cys285Trp
ENST00000635986.2:c.1254T>G	ENSP00000490653.2:p.Cys418Trp
ENST00000636774.1:c.1254T>G	ENSP00000489799.1:p.Cys418Trp
ENST00000637264.1:c.326T>G
ENST00000666746.1:c.831T>G
ENST00000672071.1:n.1452T>G
ENST00000672923.2:n.1357T>G
ENST00000268124.9:c.1254T>G	ENSP00000268124.5:p.Cys418Trp
ENST00000442287.6:c.1254T>G	ENSP00000399851.2:p.Cys418Trp
ENST00000532363.2:n.112T>G
ENST00000631044.2:c.*637T>G	ENSP00000486730.1:n.*637T>G
NM_001126131.1:c.1254T>G	NP_001119603.1:p.Cys418Trp
NM_002693.2:c.1254T>G	NP_002684.1:p.Cys418Trp
NM_001126131.2:c.1254T>G	NP_001119603.1:p.Cys418Trp
NM_002693.3:c.1254T>G MANE Select	NP_002684.1:p.Cys418Trp