Canonical Allele Identifier: CA393760977

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89870242T>G (hg19) ; chr15:g.89327011T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89327011T>G , CM000677.2:g.89327011T>G	GRCh38
NC_000015.9:g.89870242T>G , CM000677.1:g.89870242T>G	GRCh37
NC_000015.8:g.87671246T>G	NCBI36
NG_008218.1:g.12785A>C
NG_008218.2:g.12785A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.1486A>C	ENSP00000516154.1:p.Lys496Gln
ENST00000268124.11:c.1486A>C MANE Select	ENSP00000268124.5:p.Lys496Gln
ENST00000530292.3:c.1087A>C	ENSP00000432885.2:p.Lys363Gln
ENST00000635986.2:c.1486A>C	ENSP00000490653.2:p.Lys496Gln
ENST00000636774.1:c.*53A>C	ENSP00000489799.1:n.*53A>C
ENST00000637238.1:c.223A>C	ENSP00000490756.1:p.Lys75Gln
ENST00000637264.1:c.558A>C
ENST00000666746.1:c.1063A>C
ENST00000672071.1:n.1684A>C
ENST00000672923.2:n.1589A>C
ENST00000268124.9:c.1486A>C	ENSP00000268124.5:p.Lys496Gln
ENST00000442287.6:c.1486A>C	ENSP00000399851.2:p.Lys496Gln
ENST00000631044.2:c.*869A>C	ENSP00000486730.1:n.*869A>C
NM_001126131.1:c.1486A>C	NP_001119603.1:p.Lys496Gln
NM_002693.2:c.1486A>C	NP_002684.1:p.Lys496Gln
NM_001126131.2:c.1486A>C	NP_001119603.1:p.Lys496Gln
NM_002693.3:c.1486A>C MANE Select	NP_002684.1:p.Lys496Gln