Canonical Allele Identifier: CA393765340

Gene: POLG

Linked Data

• gnomAD v4: 15-89328945-C-T
• COSMIC: COSM5727259
• MyVariant Identifiers: chr15:g.89872176C>T (hg19) ; chr15:g.89328945C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89328945C>T , CM000677.2:g.89328945C>T	GRCh38
NC_000015.9:g.89872176C>T , CM000677.1:g.89872176C>T	GRCh37
NC_000015.8:g.87673180C>T	NCBI36
NG_008218.1:g.10851G>A
NG_008218.2:g.10851G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1021G>A	ENSP00000516154.1:p.Ala341Thr
ENST00000268124.11:c.1021G>A MANE Select	ENSP00000268124.5:p.Ala341Thr
ENST00000530292.3:c.622G>A	ENSP00000432885.2:p.Ala208Thr
ENST00000635986.2:c.1021G>A	ENSP00000490653.2:p.Ala341Thr
ENST00000636774.1:c.1021G>A	ENSP00000489799.1:p.Ala341Thr
ENST00000637264.1:c.93G>A
ENST00000666746.1:c.678G>A
ENST00000672071.1:n.1219G>A
ENST00000672923.2:n.18G>A
ENST00000268124.9:c.1021G>A	ENSP00000268124.5:p.Ala341Thr
ENST00000442287.6:c.1021G>A	ENSP00000399851.2:p.Ala341Thr
ENST00000631044.2:c.*404G>A	ENSP00000486730.1:n.*404G>A
NM_001126131.1:c.1021G>A	NP_001119603.1:p.Ala341Thr
NM_002693.2:c.1021G>A	NP_002684.1:p.Ala341Thr
NM_001126131.2:c.1021G>A	NP_001119603.1:p.Ala341Thr
NM_002693.3:c.1021G>A MANE Select	NP_002684.1:p.Ala341Thr