Canonical Allele Identifier: CA10602262

Gene: POLG

Linked Data

• ClinVar Variation Id: 619336
• ClinVar RCV Id: RCV000758324 ; RCV001121334
• dbSNP Id: rs1567185468
• gnomAD v4: 15-89318975-A-C
• MyVariant Identifiers: chr15:g.89862206A>C (hg19) ; chr15:g.89318975A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89318975A>C , CM000677.2:g.89318975A>C	GRCh38
NC_000015.9:g.89862206A>C , CM000677.1:g.89862206A>C	GRCh37
NC_000015.8:g.87663210A>C	NCBI36
NG_008218.1:g.20821T>G
NG_011736.1:g.80013A>C , LRG_500:g.80013A>C
NG_008218.2:g.20821T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.3229T>G	ENSP00000516154.1:p.Cys1077Gly
ENST00000268124.11:c.3229T>G MANE Select	ENSP00000268124.5:p.Cys1077Gly
ENST00000530292.3:c.2830T>G	ENSP00000432885.2:p.Cys944Gly
ENST00000635986.2:c.*299T>G	ENSP00000490653.2:n.*299T>G
ENST00000636774.1:c.*1796T>G	ENSP00000489799.1:n.*1796T>G
ENST00000637238.1:c.2038T>G	ENSP00000490756.1:n.2038T>G
ENST00000637264.1:c.2301T>G
ENST00000666746.1:c.2806T>G
ENST00000672071.1:n.3427T>G
ENST00000672695.1:n.406T>G
ENST00000672923.2:n.3229T>G
ENST00000268124.9:c.3229T>G	ENSP00000268124.5:p.Cys1077Gly
ENST00000442287.6:c.3229T>G	ENSP00000399851.2:p.Cys1077Gly
ENST00000530292.2:c.313T>G	ENSP00000432885.1:p.Cys105Gly
ENST00000631044.2:c.*2653T>G	ENSP00000486730.1:n.*2653T>G
NM_001126131.1:c.3229T>G	NP_001119603.1:p.Cys1077Gly
NM_002693.2:c.3229T>G	NP_002684.1:p.Cys1077Gly
NM_001126131.2:c.3229T>G	NP_001119603.1:p.Cys1077Gly
NM_002693.3:c.3229T>G MANE Select	NP_002684.1:p.Cys1077Gly