Canonical Allele Identifier: CA393749724

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89861813G>T (hg19) ; chr15:g.89318582G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318582G>T , CM000677.2:g.89318582G>T	GRCh38
NC_000015.9:g.89861813G>T , CM000677.1:g.89861813G>T	GRCh37
NC_000015.8:g.87662817G>T	NCBI36
NG_008218.1:g.21214C>A
NG_011736.1:g.79620G>T , LRG_500:g.79620G>T
NG_008218.2:g.21214C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.3441C>A	ENSP00000516154.1:p.Tyr1147Ter
ENST00000268124.11:c.3441C>A MANE Select	ENSP00000268124.5:p.Tyr1147Ter
ENST00000530292.3:c.3042C>A	ENSP00000432885.2:p.Tyr1014Ter
ENST00000635986.2:c.*511C>A	ENSP00000490653.2:n.*511C>A
ENST00000636774.1:c.*2008C>A	ENSP00000489799.1:n.*2008C>A
ENST00000637238.1:c.2250C>A	ENSP00000490756.1:n.2250C>A
ENST00000637264.1:c.2513C>A
ENST00000666746.1:c.3018C>A
ENST00000672071.1:n.3639C>A
ENST00000672695.1:n.618C>A
ENST00000672923.2:n.3441C>A
ENST00000268124.9:c.3441C>A	ENSP00000268124.5:p.Tyr1147Ter
ENST00000442287.6:c.3441C>A	ENSP00000399851.2:p.Tyr1147Ter
ENST00000530292.2:c.525C>A	ENSP00000432885.1:p.Tyr175Ter
ENST00000631044.2:c.*2865C>A	ENSP00000486730.1:n.*2865C>A
NM_001126131.1:c.3441C>A	NP_001119603.1:p.Tyr1147Ter
NM_002693.2:c.3441C>A	NP_002684.1:p.Tyr1147Ter
NM_001126131.2:c.3441C>A	NP_001119603.1:p.Tyr1147Ter
NM_002693.3:c.3441C>A MANE Select	NP_002684.1:p.Tyr1147Ter