Canonical Allele Identifier: CA393750624

Gene: POLG

Linked Data

• ClinVar Variation Id: 1965405
• ClinVar RCV Id: RCV002726787
• MyVariant Identifiers: chr15:g.89862220G>A (hg19) ; chr15:g.89318989G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318989G>A , CM000677.2:g.89318989G>A	GRCh38
NC_000015.9:g.89862220G>A , CM000677.1:g.89862220G>A	GRCh37
NC_000015.8:g.87663224G>A	NCBI36
NG_008218.1:g.20807C>T
NG_011736.1:g.80027G>A , LRG_500:g.80027G>A
NG_008218.2:g.20807C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.3215C>T	ENSP00000516154.1:p.Thr1072Ile
ENST00000268124.11:c.3215C>T MANE Select	ENSP00000268124.5:p.Thr1072Ile
ENST00000530292.3:c.2816C>T	ENSP00000432885.2:p.Thr939Ile
ENST00000635986.2:c.*285C>T	ENSP00000490653.2:n.*285C>T
ENST00000636774.1:c.*1782C>T	ENSP00000489799.1:n.*1782C>T
ENST00000637238.1:c.2024C>T	ENSP00000490756.1:n.2024C>T
ENST00000637264.1:c.2287C>T
ENST00000666746.1:c.2792C>T
ENST00000672071.1:n.3413C>T
ENST00000672695.1:n.392C>T
ENST00000672923.2:n.3215C>T
ENST00000268124.9:c.3215C>T	ENSP00000268124.5:p.Thr1072Ile
ENST00000442287.6:c.3215C>T	ENSP00000399851.2:p.Thr1072Ile
ENST00000530292.2:c.299C>T	ENSP00000432885.1:p.Thr100Ile
ENST00000631044.2:c.*2639C>T	ENSP00000486730.1:n.*2639C>T
NM_001126131.1:c.3215C>T	NP_001119603.1:p.Thr1072Ile
NM_002693.2:c.3215C>T	NP_002684.1:p.Thr1072Ile
NM_001126131.2:c.3215C>T	NP_001119603.1:p.Thr1072Ile
NM_002693.3:c.3215C>T MANE Select	NP_002684.1:p.Thr1072Ile