Canonical Allele Identifier: CA492289591

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89870243A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89327012A>G , CM000677.2:g.89327012A>G	GRCh38
NC_000015.9:g.89870243A>G , CM000677.1:g.89870243A>G	GRCh37
NC_000015.8:g.87671247A>G	NCBI36
NG_008218.1:g.12784T>C
NG_008218.2:g.12784T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.1485T>C	ENSP00000516154.1:p.Phe495=
ENST00000268124.11:c.1485T>C MANE Select	ENSP00000268124.5:p.Phe495=
ENST00000530292.3:c.1086T>C	ENSP00000432885.2:p.Phe362=
ENST00000635986.2:c.1485T>C	ENSP00000490653.2:p.Phe495=
ENST00000636774.1:c.*52T>C	ENSP00000489799.1:n.*52T>C
ENST00000637238.1:c.222T>C	ENSP00000490756.1:p.Phe74=
ENST00000637264.1:c.557T>C
ENST00000666746.1:c.1062T>C
ENST00000672071.1:n.1683T>C
ENST00000672923.2:n.1588T>C
ENST00000268124.9:c.1485T>C	ENSP00000268124.5:p.Phe495=
ENST00000442287.6:c.1485T>C	ENSP00000399851.2:p.Phe495=
ENST00000631044.2:c.*868T>C	ENSP00000486730.1:n.*868T>C
NM_001126131.1:c.1485T>C	NP_001119603.1:p.Phe495=
NM_002693.2:c.1485T>C	NP_002684.1:p.Phe495=
NM_001126131.2:c.1485T>C	NP_001119603.1:p.Phe495=
NM_002693.3:c.1485T>C MANE Select	NP_002684.1:p.Phe495=