Canonical Allele Identifier: CA7724692

Gene: POLG

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325638C>T , CM000677.2:g.89325638C>T	GRCh38
NC_000015.9:g.89868869C>T , CM000677.1:g.89868869C>T	GRCh37
NC_000015.8:g.87669873C>T	NCBI36
NG_008218.1:g.14158G>A
NG_008218.2:g.14158G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1761G>A	ENSP00000516154.1:p.Pro587=
ENST00000268124.11:c.1761G>A MANE Select	ENSP00000268124.5:p.Pro587=
ENST00000530292.3:c.1362G>A	ENSP00000432885.2:p.Pro454=
ENST00000635986.2:c.1761G>A	ENSP00000490653.2:p.Pro587=
ENST00000636774.1:c.*328G>A	ENSP00000489799.1:n.*328G>A
ENST00000637238.1:c.498G>A	ENSP00000490756.1:p.Pro166=
ENST00000637264.1:c.833G>A
ENST00000666746.1:c.1338G>A
ENST00000670281.1:c.81G>A	ENSP00000499709.1:p.Pro27=
ENST00000672071.1:n.1959G>A
ENST00000672923.2:n.1864G>A
ENST00000268124.9:c.1761G>A	ENSP00000268124.5:p.Pro587=
ENST00000442287.6:c.1761G>A	ENSP00000399851.2:p.Pro587=
ENST00000526314.2:c.143G>A
ENST00000631044.2:c.*1144G>A	ENSP00000486730.1:n.*1144G>A
NM_001126131.1:c.1761G>A	NP_001119603.1:p.Pro587=
NM_002693.2:c.1761G>A	NP_002684.1:p.Pro587=
NM_001126131.2:c.1761G>A	NP_001119603.1:p.Pro587=
NM_002693.3:c.1761G>A MANE Select	NP_002684.1:p.Pro587=