Canonical Allele Identifier: CA393765186

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89872045C>A (hg19) ; chr15:g.89328814C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89328814C>A , CM000677.2:g.89328814C>A	GRCh38
NC_000015.9:g.89872045C>A , CM000677.1:g.89872045C>A	GRCh37
NC_000015.8:g.87673049C>A	NCBI36
NG_008218.1:g.10982G>T
NG_008218.2:g.10982G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1041G>T	ENSP00000516154.1:p.Trp347Cys
ENST00000268124.11:c.1041G>T MANE Select	ENSP00000268124.5:p.Trp347Cys
ENST00000530292.3:c.642G>T	ENSP00000432885.2:p.Trp214Cys
ENST00000635986.2:c.1041G>T	ENSP00000490653.2:p.Trp347Cys
ENST00000636774.1:c.1041G>T	ENSP00000489799.1:p.Trp347Cys
ENST00000637264.1:c.113G>T
ENST00000666746.1:c.698G>T
ENST00000672071.1:n.1239G>T
ENST00000672923.2:n.38G>T
ENST00000268124.9:c.1041G>T	ENSP00000268124.5:p.Trp347Cys
ENST00000442287.6:c.1041G>T	ENSP00000399851.2:p.Trp347Cys
ENST00000631044.2:c.*424G>T	ENSP00000486730.1:n.*424G>T
NM_001126131.1:c.1041G>T	NP_001119603.1:p.Trp347Cys
NM_002693.2:c.1041G>T	NP_002684.1:p.Trp347Cys
NM_001126131.2:c.1041G>T	NP_001119603.1:p.Trp347Cys
NM_002693.3:c.1041G>T MANE Select	NP_002684.1:p.Trp347Cys