Canonical Allele Identifier: CA393756650

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89866649T>A (hg19) ; chr15:g.89323418T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323418T>A , CM000677.2:g.89323418T>A	GRCh38
NC_000015.9:g.89866649T>A , CM000677.1:g.89866649T>A	GRCh37
NC_000015.8:g.87667653T>A	NCBI36
NG_008218.1:g.16378A>T
NG_008218.2:g.16378A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2251A>T	ENSP00000516154.1:p.Lys751Ter
ENST00000268124.11:c.2251A>T MANE Select	ENSP00000268124.5:p.Lys751Ter
ENST00000530292.3:c.1852A>T	ENSP00000432885.2:p.Lys618Ter
ENST00000635986.2:c.2251A>T	ENSP00000490653.2:p.Lys751Ter
ENST00000636774.1:c.*818A>T	ENSP00000489799.1:n.*818A>T
ENST00000637238.1:c.948A>T	ENSP00000490756.1:n.948A>T
ENST00000637264.1:c.1323A>T
ENST00000666746.1:c.1828A>T
ENST00000670281.1:c.571A>T	ENSP00000499709.1:p.Lys191Ter
ENST00000672071.1:n.2449A>T
ENST00000672923.2:n.2354A>T
ENST00000268124.9:c.2251A>T	ENSP00000268124.5:p.Lys751Ter
ENST00000442287.6:c.2251A>T	ENSP00000399851.2:p.Lys751Ter
ENST00000526314.2:c.539+397A>T
ENST00000526398.1:c.400A>T
ENST00000528881.2:c.20A>T
ENST00000530715.5:c.10A>T	ENSP00000431395.1:p.Lys4Ter
ENST00000532584.5:n.453A>T
ENST00000631044.2:c.*1675A>T	ENSP00000486730.1:n.*1675A>T
NM_001126131.1:c.2251A>T	NP_001119603.1:p.Lys751Ter
NM_002693.2:c.2251A>T	NP_002684.1:p.Lys751Ter
NM_001126131.2:c.2251A>T	NP_001119603.1:p.Lys751Ter
NM_002693.3:c.2251A>T MANE Select	NP_002684.1:p.Lys751Ter