Canonical Allele Identifier: CA7724584

Gene: POLG

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89323851G>T , CM000677.2:g.89323851G>T	GRCh38
NC_000015.9:g.89867082G>T , CM000677.1:g.89867082G>T	GRCh37
NC_000015.8:g.87668086G>T	NCBI36
NG_008218.1:g.15945C>A
NG_008218.2:g.15945C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.2121C>A	ENSP00000516154.1:p.Asn707Lys
ENST00000268124.11:c.2121C>A MANE Select	ENSP00000268124.5:p.Asn707Lys
ENST00000530292.3:c.1722C>A	ENSP00000432885.2:p.Asn574Lys
ENST00000635986.2:c.2121C>A	ENSP00000490653.2:p.Asn707Lys
ENST00000636774.1:c.*688C>A	ENSP00000489799.1:n.*688C>A
ENST00000637238.1:c.818C>A	ENSP00000490756.1:n.818C>A
ENST00000637264.1:c.1193C>A
ENST00000666746.1:c.1698C>A
ENST00000670281.1:c.441C>A	ENSP00000499709.1:p.Asn147Lys
ENST00000672071.1:n.2319C>A
ENST00000672923.2:n.2224C>A
ENST00000268124.9:c.2121C>A	ENSP00000268124.5:p.Asn707Lys
ENST00000442287.6:c.2121C>A	ENSP00000399851.2:p.Asn707Lys
ENST00000526314.2:c.503C>A
ENST00000526398.1:c.270C>A
ENST00000526573.1:n.207C>A
ENST00000532584.5:n.323C>A
ENST00000533857.1:n.236C>A
ENST00000631044.2:c.*1504C>A	ENSP00000486730.1:n.*1504C>A
NM_001126131.1:c.2121C>A	NP_001119603.1:p.Asn707Lys
NM_002693.2:c.2121C>A	NP_002684.1:p.Asn707Lys
NM_001126131.2:c.2121C>A	NP_001119603.1:p.Asn707Lys
NM_002693.3:c.2121C>A MANE Select	NP_002684.1:p.Asn707Lys