Canonical Allele Identifier: CA123150

Gene: POLG

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323426C>G , CM000677.2:g.89323426C>G	GRCh38
NC_000015.9:g.89866657C>G , CM000677.1:g.89866657C>G	GRCh37
NC_000015.8:g.87667661C>G	NCBI36
NG_008218.1:g.16370G>C
NG_008218.2:g.16370G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2243G>C	ENSP00000516154.1:p.Trp748Ser
ENST00000268124.11:c.2243G>C MANE Select	ENSP00000268124.5:p.Trp748Ser
ENST00000530292.3:c.1844G>C	ENSP00000432885.2:p.Trp615Ser
ENST00000635986.2:c.2243G>C	ENSP00000490653.2:p.Trp748Ser
ENST00000636774.1:c.*810G>C	ENSP00000489799.1:n.*810G>C
ENST00000637238.1:c.940G>C	ENSP00000490756.1:n.940G>C
ENST00000637264.1:c.1315G>C
ENST00000666746.1:c.1820G>C
ENST00000670281.1:c.563G>C	ENSP00000499709.1:p.Trp188Ser
ENST00000672071.1:n.2441G>C
ENST00000672923.2:n.2346G>C
ENST00000268124.9:c.2243G>C	ENSP00000268124.5:p.Trp748Ser
ENST00000442287.6:c.2243G>C	ENSP00000399851.2:p.Trp748Ser
ENST00000526314.2:c.539+389G>C
ENST00000526398.1:c.392G>C
ENST00000528881.2:c.12G>C
ENST00000530715.5:c.2G>C	ENSP00000431395.1:p.Trp1Ser
ENST00000532584.5:n.445G>C
ENST00000631044.2:c.*1667G>C	ENSP00000486730.1:n.*1667G>C
NM_001126131.1:c.2243G>C	NP_001119603.1:p.Trp748Ser
NM_002693.2:c.2243G>C	NP_002684.1:p.Trp748Ser
NM_001126131.2:c.2243G>C	NP_001119603.1:p.Trp748Ser
NM_002693.3:c.2243G>C MANE Select	NP_002684.1:p.Trp748Ser