Canonical Allele Identifier: CA7724668

Gene: POLG

Linked Data

• ClinVar Variation Id: 458698
• ClinVar RCV Id: RCV000550612 ; RCV000763993
• dbSNP Id: rs754245040
• ExAC: 15:89868748 G / A
• gnomAD v2: 15-89868748-G-A
• gnomAD v3: 15-89325517-G-A
• gnomAD v4: 15-89325517-G-A
• MyVariant Identifiers: chr15:g.89868748G>A (hg19) ; chr15:g.89325517G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325517G>A , CM000677.2:g.89325517G>A	GRCh38
NC_000015.9:g.89868748G>A , CM000677.1:g.89868748G>A	GRCh37
NC_000015.8:g.87669752G>A	NCBI36
NG_008218.1:g.14279C>T
NG_008218.2:g.14279C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1882C>T	ENSP00000516154.1:p.Arg628Trp
ENST00000268124.11:c.1882C>T MANE Select	ENSP00000268124.5:p.Arg628Trp
ENST00000530292.3:c.1483C>T	ENSP00000432885.2:p.Arg495Trp
ENST00000635986.2:c.1882C>T	ENSP00000490653.2:p.Arg628Trp
ENST00000636774.1:c.*449C>T	ENSP00000489799.1:n.*449C>T
ENST00000637238.1:c.619C>T	ENSP00000490756.1:p.Arg207Trp
ENST00000637264.1:c.954C>T
ENST00000666746.1:c.1459C>T
ENST00000670281.1:c.202C>T	ENSP00000499709.1:p.Arg68Trp
ENST00000672071.1:n.2080C>T
ENST00000672923.2:n.1985C>T
ENST00000268124.9:c.1882C>T	ENSP00000268124.5:p.Arg628Trp
ENST00000442287.6:c.1882C>T	ENSP00000399851.2:p.Arg628Trp
ENST00000526314.2:c.264C>T
ENST00000526398.1:c.71C>T
ENST00000532584.5:n.84C>T
ENST00000631044.2:c.*1265C>T	ENSP00000486730.1:n.*1265C>T
NM_001126131.1:c.1882C>T	NP_001119603.1:p.Arg628Trp
NM_002693.2:c.1882C>T	NP_002684.1:p.Arg628Trp
NM_001126131.2:c.1882C>T	NP_001119603.1:p.Arg628Trp
NM_002693.3:c.1882C>T MANE Select	NP_002684.1:p.Arg628Trp