Canonical Allele Identifier: CA316892

Gene: POLG

Linked Data

• ClinVar Variation Id: 206627
• ClinVar RCV Id: RCV000188693
• dbSNP Id: rs796052917
• gnomAD v4: 15-89328737-G-A
• MyVariant Identifiers: chr15:g.89871968G>A (hg19) ; chr15:g.89328737G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89328737G>A , CM000677.2:g.89328737G>A	GRCh38
NC_000015.9:g.89871968G>A , CM000677.1:g.89871968G>A	GRCh37
NC_000015.8:g.87672972G>A	NCBI36
NG_008218.1:g.11059C>T
NG_008218.2:g.11059C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.1118C>T	ENSP00000516154.1:p.Pro373Leu
ENST00000268124.11:c.1118C>T MANE Select	ENSP00000268124.5:p.Pro373Leu
ENST00000530292.3:c.719C>T	ENSP00000432885.2:p.Pro240Leu
ENST00000635986.2:c.1118C>T	ENSP00000490653.2:p.Pro373Leu
ENST00000636774.1:c.1118C>T	ENSP00000489799.1:p.Pro373Leu
ENST00000637264.1:c.190C>T
ENST00000666746.1:c.775C>T
ENST00000672071.1:n.1316C>T
ENST00000672923.2:n.115C>T
ENST00000268124.9:c.1118C>T	ENSP00000268124.5:p.Pro373Leu
ENST00000442287.6:c.1118C>T	ENSP00000399851.2:p.Pro373Leu
ENST00000631044.2:c.*501C>T	ENSP00000486730.1:n.*501C>T
NM_001126131.1:c.1118C>T	NP_001119603.1:p.Pro373Leu
NM_002693.2:c.1118C>T	NP_002684.1:p.Pro373Leu
NM_001126131.2:c.1118C>T	NP_001119603.1:p.Pro373Leu
NM_002693.3:c.1118C>T MANE Select	NP_002684.1:p.Pro373Leu