Canonical Allele Identifier: CA393756647

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89866647C>G (hg19) ; chr15:g.89323416C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323416C>G , CM000677.2:g.89323416C>G	GRCh38
NC_000015.9:g.89866647C>G , CM000677.1:g.89866647C>G	GRCh37
NC_000015.8:g.87667651C>G	NCBI36
NG_008218.1:g.16380G>C
NG_008218.2:g.16380G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2253G>C	ENSP00000516154.1:p.Lys751Asn
ENST00000268124.11:c.2253G>C MANE Select	ENSP00000268124.5:p.Lys751Asn
ENST00000530292.3:c.1854G>C	ENSP00000432885.2:p.Lys618Asn
ENST00000635986.2:c.2253G>C	ENSP00000490653.2:p.Lys751Asn
ENST00000636774.1:c.*820G>C	ENSP00000489799.1:n.*820G>C
ENST00000637238.1:c.950G>C	ENSP00000490756.1:n.950G>C
ENST00000637264.1:c.1325G>C
ENST00000666746.1:c.1830G>C
ENST00000670281.1:c.573G>C	ENSP00000499709.1:p.Lys191Asn
ENST00000672071.1:n.2451G>C
ENST00000672923.2:n.2356G>C
ENST00000268124.9:c.2253G>C	ENSP00000268124.5:p.Lys751Asn
ENST00000442287.6:c.2253G>C	ENSP00000399851.2:p.Lys751Asn
ENST00000526314.2:c.539+399G>C
ENST00000526398.1:c.402G>C
ENST00000528881.2:c.22G>C
ENST00000530715.5:c.12G>C	ENSP00000431395.1:p.Lys4Asn
ENST00000532584.5:n.455G>C
ENST00000631044.2:c.*1677G>C	ENSP00000486730.1:n.*1677G>C
NM_001126131.1:c.2253G>C	NP_001119603.1:p.Lys751Asn
NM_002693.2:c.2253G>C	NP_002684.1:p.Lys751Asn
NM_001126131.2:c.2253G>C	NP_001119603.1:p.Lys751Asn
NM_002693.3:c.2253G>C MANE Select	NP_002684.1:p.Lys751Asn