Canonical Allele Identifier: CA492080436

Gene: POLG

Linked Data

• ClinVar Variation Id: 2096218
• ClinVar RCV Id: RCV003014063
• dbSNP Id: rs2055575480
• MyVariant Identifiers: chr15:g.89873396G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89330165G>C , CM000677.2:g.89330165G>C	GRCh38
NC_000015.9:g.89873396G>C , CM000677.1:g.89873396G>C	GRCh37
NC_000015.8:g.87674400G>C	NCBI36
NG_008218.1:g.9631C>G
NG_008218.2:g.9631C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.771C>G	ENSP00000516154.1:p.Thr257=
ENST00000268124.11:c.771C>G MANE Select	ENSP00000268124.5:p.Thr257=
ENST00000530292.3:c.372C>G	ENSP00000432885.2:p.Thr124=
ENST00000635986.2:c.771C>G	ENSP00000490653.2:p.Thr257=
ENST00000636774.1:c.771C>G	ENSP00000489799.1:p.Thr257=
ENST00000666746.1:c.428C>G
ENST00000672071.1:n.969C>G
ENST00000268124.9:c.771C>G	ENSP00000268124.5:p.Thr257=
ENST00000442287.6:c.771C>G	ENSP00000399851.2:p.Thr257=
ENST00000631044.2:c.*154C>G	ENSP00000486730.1:n.*154C>G
NM_001126131.1:c.771C>G	NP_001119603.1:p.Thr257=
NM_002693.2:c.771C>G	NP_002684.1:p.Thr257=
NM_001126131.2:c.771C>G	NP_001119603.1:p.Thr257=
NM_002693.3:c.771C>G MANE Select	NP_002684.1:p.Thr257=