Canonical Allele Identifier: CA393759232

Gene: POLG

Linked Data

• ClinVar Variation Id: 2427920
• ClinVar RCV Id: RCV003116891
• MyVariant Identifiers: chr15:g.89868780C>G (hg19) ; chr15:g.89325549C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89325549C>G , CM000677.2:g.89325549C>G	GRCh38
NC_000015.9:g.89868780C>G , CM000677.1:g.89868780C>G	GRCh37
NC_000015.8:g.87669784C>G	NCBI36
NG_008218.1:g.14247G>C
NG_008218.2:g.14247G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1850G>C	ENSP00000516154.1:p.Arg617Pro
ENST00000268124.11:c.1850G>C MANE Select	ENSP00000268124.5:p.Arg617Pro
ENST00000530292.3:c.1451G>C	ENSP00000432885.2:p.Arg484Pro
ENST00000635986.2:c.1850G>C	ENSP00000490653.2:p.Arg617Pro
ENST00000636774.1:c.*417G>C	ENSP00000489799.1:n.*417G>C
ENST00000637238.1:c.587G>C	ENSP00000490756.1:p.Arg196Pro
ENST00000637264.1:c.922G>C
ENST00000666746.1:c.1427G>C
ENST00000670281.1:c.170G>C	ENSP00000499709.1:p.Arg57Pro
ENST00000672071.1:n.2048G>C
ENST00000672923.2:n.1953G>C
ENST00000268124.9:c.1850G>C	ENSP00000268124.5:p.Arg617Pro
ENST00000442287.6:c.1850G>C	ENSP00000399851.2:p.Arg617Pro
ENST00000526314.2:c.232G>C
ENST00000526398.1:c.39G>C
ENST00000532584.5:n.52G>C
ENST00000631044.2:c.*1233G>C	ENSP00000486730.1:n.*1233G>C
NM_001126131.1:c.1850G>C	NP_001119603.1:p.Arg617Pro
NM_002693.2:c.1850G>C	NP_002684.1:p.Arg617Pro
NM_001126131.2:c.1850G>C	NP_001119603.1:p.Arg617Pro
NM_002693.3:c.1850G>C MANE Select	NP_002684.1:p.Arg617Pro