Canonical Allele Identifier: CA393760841

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89870213C>G (hg19) ; chr15:g.89326982C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89326982C>G , CM000677.2:g.89326982C>G	GRCh38
NC_000015.9:g.89870213C>G , CM000677.1:g.89870213C>G	GRCh37
NC_000015.8:g.87671217C>G	NCBI36
NG_008218.1:g.12814G>C
NG_008218.2:g.12814G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1515G>C	ENSP00000516154.1:p.Lys505Asn
ENST00000268124.11:c.1515G>C MANE Select	ENSP00000268124.5:p.Lys505Asn
ENST00000530292.3:c.1116G>C	ENSP00000432885.2:p.Lys372Asn
ENST00000635986.2:c.1515G>C	ENSP00000490653.2:p.Lys505Asn
ENST00000636774.1:c.*82G>C	ENSP00000489799.1:n.*82G>C
ENST00000637238.1:c.252G>C	ENSP00000490756.1:p.Lys84Asn
ENST00000637264.1:c.587G>C
ENST00000666746.1:c.1092G>C
ENST00000672071.1:n.1713G>C
ENST00000672923.2:n.1618G>C
ENST00000268124.9:c.1515G>C	ENSP00000268124.5:p.Lys505Asn
ENST00000442287.6:c.1515G>C	ENSP00000399851.2:p.Lys505Asn
ENST00000631044.2:c.*898G>C	ENSP00000486730.1:n.*898G>C
NM_001126131.1:c.1515G>C	NP_001119603.1:p.Lys505Asn
NM_002693.2:c.1515G>C	NP_002684.1:p.Lys505Asn
NM_001126131.2:c.1515G>C	NP_001119603.1:p.Lys505Asn
NM_002693.3:c.1515G>C MANE Select	NP_002684.1:p.Lys505Asn