Canonical Allele Identifier: CA7724702

Gene: POLG

Linked Data

• ClinVar Variation Id: 1452045
• ClinVar RCV Id: RCV002007520 ; RCV003322908
• dbSNP Id: rs774474723
• ExAC: 15:89868910 G / A
• gnomAD v2: 15-89868910-G-A
• gnomAD v3: 15-89325679-G-A
• gnomAD v4: 15-89325679-G-A
• MyVariant Identifiers: chr15:g.89868910G>A (hg19) ; chr15:g.89325679G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325679G>A , CM000677.2:g.89325679G>A	GRCh38
NC_000015.9:g.89868910G>A , CM000677.1:g.89868910G>A	GRCh37
NC_000015.8:g.87669914G>A	NCBI36
NG_008218.1:g.14117C>T
NG_008218.2:g.14117C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1720C>T	ENSP00000516154.1:p.Arg574Trp
ENST00000268124.11:c.1720C>T MANE Select	ENSP00000268124.5:p.Arg574Trp
ENST00000530292.3:c.1321C>T	ENSP00000432885.2:p.Arg441Trp
ENST00000635986.2:c.1720C>T	ENSP00000490653.2:p.Arg574Trp
ENST00000636774.1:c.*287C>T	ENSP00000489799.1:n.*287C>T
ENST00000637238.1:c.457C>T	ENSP00000490756.1:p.Arg153Trp
ENST00000637264.1:c.792C>T
ENST00000666746.1:c.1297C>T
ENST00000670281.1:c.40C>T	ENSP00000499709.1:p.Arg14Trp
ENST00000672071.1:n.1918C>T
ENST00000672923.2:n.1823C>T
ENST00000268124.9:c.1720C>T	ENSP00000268124.5:p.Arg574Trp
ENST00000442287.6:c.1720C>T	ENSP00000399851.2:p.Arg574Trp
ENST00000526314.2:c.102C>T
ENST00000631044.2:c.*1103C>T	ENSP00000486730.1:n.*1103C>T
NM_001126131.1:c.1720C>T	NP_001119603.1:p.Arg574Trp
NM_002693.2:c.1720C>T	NP_002684.1:p.Arg574Trp
NM_001126131.2:c.1720C>T	NP_001119603.1:p.Arg574Trp
NM_002693.3:c.1720C>T MANE Select	NP_002684.1:p.Arg574Trp