Canonical Allele Identifier: CA292854

Gene: POLG

Linked Data

• ClinVar Variation Id: 138765
• ClinVar RCV Id: RCV000127546 ; RCV000547592 ; RCV001847755 ; RCV003311689
• dbSNP Id: rs146584956
• ExAC: 15:89860686 G / A
• gnomAD v2: 15-89860686-G-A
• gnomAD v3: 15-89317455-G-A
• gnomAD v4: 15-89317455-G-A
• MyVariant Identifiers: chr15:g.89860686G>A (hg19) ; chr15:g.89317455G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317455G>A , CM000677.2:g.89317455G>A	GRCh38
NC_000015.9:g.89860686G>A , CM000677.1:g.89860686G>A	GRCh37
NC_000015.8:g.87661690G>A	NCBI36
NG_008218.1:g.22341C>T
NG_011736.1:g.78493G>A , LRG_500:g.78493G>A
NG_008218.2:g.22341C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3564C>T	ENSP00000516154.1:p.Cys1188=
ENST00000268124.11:c.3564C>T MANE Select	ENSP00000268124.5:p.Cys1188=
ENST00000530292.3:c.3264C>T	ENSP00000432885.2:n.3264C>T
ENST00000635986.2:c.*634C>T	ENSP00000490653.2:n.*634C>T
ENST00000636774.1:c.*2168C>T	ENSP00000489799.1:n.*2168C>T
ENST00000637042.1:n.88C>T
ENST00000637238.1:c.2472C>T	ENSP00000490756.1:n.2472C>T
ENST00000637264.1:c.2576C>T
ENST00000666746.1:c.3141C>T
ENST00000672071.1:n.4766C>T
ENST00000672695.1:n.1343C>T
ENST00000672923.2:n.3564C>T
ENST00000268124.9:c.3564C>T	ENSP00000268124.5:p.Cys1188=
ENST00000442287.6:c.3564C>T	ENSP00000399851.2:p.Cys1188=
ENST00000526671.1:n.374C>T
ENST00000530292.2:c.747C>T	ENSP00000432885.1:n.747C>T
ENST00000631044.2:c.*2988C>T	ENSP00000486730.1:n.*2988C>T
NM_001126131.1:c.3564C>T	NP_001119603.1:p.Cys1188=
NM_002693.2:c.3564C>T	NP_002684.1:p.Cys1188=
NM_001126131.2:c.3564C>T	NP_001119603.1:p.Cys1188=
NM_002693.3:c.3564C>T MANE Select	NP_002684.1:p.Cys1188=