Canonical Allele Identifier: CA393751296

Gene: POLG

Linked Data

• ClinVar Variation Id: 1695631
• ClinVar RCV Id: RCV002265266
• dbSNP Id: rs2055358434
• MyVariant Identifiers: chr15:g.89862483T>A (hg19) ; chr15:g.89319252T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89319252T>A , CM000677.2:g.89319252T>A	GRCh38
NC_000015.9:g.89862483T>A , CM000677.1:g.89862483T>A	GRCh37
NC_000015.8:g.87663487T>A	NCBI36
NG_008218.1:g.20544A>T
NG_008218.2:g.20544A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.3080A>T	ENSP00000516154.1:p.Lys1027Met
ENST00000268124.11:c.3080A>T MANE Select	ENSP00000268124.5:p.Lys1027Met
ENST00000530292.3:c.2681A>T	ENSP00000432885.2:p.Lys894Met
ENST00000635986.2:c.*150A>T	ENSP00000490653.2:n.*150A>T
ENST00000636530.1:n.40A>T
ENST00000636774.1:c.*1647A>T	ENSP00000489799.1:n.*1647A>T
ENST00000637238.1:c.1889A>T	ENSP00000490756.1:n.1889A>T
ENST00000637264.1:c.2152A>T
ENST00000666746.1:c.2657A>T
ENST00000672071.1:n.3278A>T
ENST00000672695.1:n.257A>T
ENST00000672923.2:n.3080A>T
ENST00000268124.9:c.3080A>T	ENSP00000268124.5:p.Lys1027Met
ENST00000442287.6:c.3080A>T	ENSP00000399851.2:p.Lys1027Met
ENST00000530292.2:c.164A>T	ENSP00000432885.1:p.Lys55Met
ENST00000631044.2:c.*2504A>T	ENSP00000486730.1:n.*2504A>T
NM_001126131.1:c.3080A>T	NP_001119603.1:p.Lys1027Met
NM_002693.2:c.3080A>T	NP_002684.1:p.Lys1027Met
NM_001126131.2:c.3080A>T	NP_001119603.1:p.Lys1027Met
NM_002693.3:c.3080A>T MANE Select	NP_002684.1:p.Lys1027Met