Canonical Allele Identifier: CA492288952

Gene: POLG

Linked Data

• dbSNP Id: rs146936870
• gnomAD v3: 15-89318988-G-A
• gnomAD v4: 15-89318988-G-A
• MyVariant Identifiers: chr15:g.89862219G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318988G>A , CM000677.2:g.89318988G>A	GRCh38
NC_000015.9:g.89862219G>A , CM000677.1:g.89862219G>A	GRCh37
NC_000015.8:g.87663223G>A	NCBI36
NG_008218.1:g.20808C>T
NG_011736.1:g.80026G>A , LRG_500:g.80026G>A
NG_008218.2:g.20808C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3216C>T	ENSP00000516154.1:p.Thr1072=
ENST00000268124.11:c.3216C>T MANE Select	ENSP00000268124.5:p.Thr1072=
ENST00000530292.3:c.2817C>T	ENSP00000432885.2:p.Thr939=
ENST00000635986.2:c.*286C>T	ENSP00000490653.2:n.*286C>T
ENST00000636774.1:c.*1783C>T	ENSP00000489799.1:n.*1783C>T
ENST00000637238.1:c.2025C>T	ENSP00000490756.1:n.2025C>T
ENST00000637264.1:c.2288C>T
ENST00000666746.1:c.2793C>T
ENST00000672071.1:n.3414C>T
ENST00000672695.1:n.393C>T
ENST00000672923.2:n.3216C>T
ENST00000268124.9:c.3216C>T	ENSP00000268124.5:p.Thr1072=
ENST00000442287.6:c.3216C>T	ENSP00000399851.2:p.Thr1072=
ENST00000530292.2:c.300C>T	ENSP00000432885.1:p.Thr100=
ENST00000631044.2:c.*2640C>T	ENSP00000486730.1:n.*2640C>T
NM_001126131.1:c.3216C>T	NP_001119603.1:p.Thr1072=
NM_002693.2:c.3216C>T	NP_002684.1:p.Thr1072=
NM_001126131.2:c.3216C>T	NP_001119603.1:p.Thr1072=
NM_002693.3:c.3216C>T MANE Select	NP_002684.1:p.Thr1072=