Canonical Allele Identifier: CA316756

Gene: POLG

Linked Data

• ClinVar Variation Id: 206556
• ClinVar RCV Id: RCV001263172 ; RCV001753588 ; RCV001814095 ; RCV003984830 ; RCV003985757
• dbSNP Id: rs201732356
• ExAC: 15:89861968 G / A
• gnomAD v2: 15-89861968-G-A
• gnomAD v3: 15-89318737-G-A
• gnomAD v4: 15-89318737-G-A
• MyVariant Identifiers: chr15:g.89861968G>A (hg19) ; chr15:g.89318737G>A (hg38)
• ERepo: CA316756/MONDO:0044970/014

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318737G>A , CM000677.2:g.89318737G>A	GRCh38
NC_000015.9:g.89861968G>A , CM000677.1:g.89861968G>A	GRCh37
NC_000015.8:g.87662972G>A	NCBI36
NG_008218.1:g.21059C>T
NG_011736.1:g.79775G>A , LRG_500:g.79775G>A
NG_008218.2:g.21059C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.3286C>T	ENSP00000516154.1:p.Arg1096Cys
ENST00000268124.11:c.3286C>T MANE Select	ENSP00000268124.5:p.Arg1096Cys
ENST00000530292.3:c.2887C>T	ENSP00000432885.2:p.Arg963Cys
ENST00000635986.2:c.*356C>T	ENSP00000490653.2:n.*356C>T
ENST00000636774.1:c.*1853C>T	ENSP00000489799.1:n.*1853C>T
ENST00000637238.1:c.2095C>T	ENSP00000490756.1:n.2095C>T
ENST00000637264.1:c.2358C>T
ENST00000666746.1:c.2863C>T
ENST00000672071.1:n.3484C>T
ENST00000672695.1:n.463C>T
ENST00000672923.2:n.3286C>T
ENST00000268124.9:c.3286C>T	ENSP00000268124.5:p.Arg1096Cys
ENST00000442287.6:c.3286C>T	ENSP00000399851.2:p.Arg1096Cys
ENST00000530292.2:c.370C>T	ENSP00000432885.1:p.Arg124Cys
ENST00000631044.2:c.*2710C>T	ENSP00000486730.1:n.*2710C>T
NM_001126131.1:c.3286C>T	NP_001119603.1:p.Arg1096Cys
NM_002693.2:c.3286C>T	NP_002684.1:p.Arg1096Cys
NM_001126131.2:c.3286C>T	NP_001119603.1:p.Arg1096Cys
NM_002693.3:c.3286C>T MANE Select	NP_002684.1:p.Arg1096Cys