Canonical Allele Identifier: CA393749731

Gene: POLG

Linked Data

• ClinVar Variation Id: 932345
• ClinVar RCV Id: RCV001200105
• dbSNP Id: rs1202309863
• MyVariant Identifiers: chr15:g.89861817C>A (hg19) ; chr15:g.89318586C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318586C>A , CM000677.2:g.89318586C>A	GRCh38
NC_000015.9:g.89861817C>A , CM000677.1:g.89861817C>A	GRCh37
NC_000015.8:g.87662821C>A	NCBI36
NG_008218.1:g.21210G>T
NG_011736.1:g.79624C>A , LRG_500:g.79624C>A
NG_008218.2:g.21210G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.3437G>T	ENSP00000516154.1:p.Arg1146Leu
ENST00000268124.11:c.3437G>T MANE Select	ENSP00000268124.5:p.Arg1146Leu
ENST00000530292.3:c.3038G>T	ENSP00000432885.2:p.Arg1013Leu
ENST00000635986.2:c.*507G>T	ENSP00000490653.2:n.*507G>T
ENST00000636774.1:c.*2004G>T	ENSP00000489799.1:n.*2004G>T
ENST00000637238.1:c.2246G>T	ENSP00000490756.1:n.2246G>T
ENST00000637264.1:c.2509G>T
ENST00000666746.1:c.3014G>T
ENST00000672071.1:n.3635G>T
ENST00000672695.1:n.614G>T
ENST00000672923.2:n.3437G>T
ENST00000268124.9:c.3437G>T	ENSP00000268124.5:p.Arg1146Leu
ENST00000442287.6:c.3437G>T	ENSP00000399851.2:p.Arg1146Leu
ENST00000530292.2:c.521G>T	ENSP00000432885.1:p.Arg174Leu
ENST00000631044.2:c.*2861G>T	ENSP00000486730.1:n.*2861G>T
NM_001126131.1:c.3437G>T	NP_001119603.1:p.Arg1146Leu
NM_002693.2:c.3437G>T	NP_002684.1:p.Arg1146Leu
NM_001126131.2:c.3437G>T	NP_001119603.1:p.Arg1146Leu
NM_002693.3:c.3437G>T MANE Select	NP_002684.1:p.Arg1146Leu