Canonical Allele Identifier: CA393750556

Gene: POLG

Linked Data

• MyVariant Identifiers: chr15:g.89862206A>G (hg19) ; chr15:g.89318975A>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.3229T>C	ENSP00000516154.1:p.Cys1077Arg
ENST00000268124.11:c.3229T>C MANE Select	ENSP00000268124.5:p.Cys1077Arg
ENST00000530292.3:c.2830T>C	ENSP00000432885.2:p.Cys944Arg
ENST00000635986.2:c.*299T>C	ENSP00000490653.2:n.*299T>C
ENST00000636774.1:c.*1796T>C	ENSP00000489799.1:n.*1796T>C
ENST00000637238.1:c.2038T>C	ENSP00000490756.1:n.2038T>C
ENST00000637264.1:c.2301T>C
ENST00000666746.1:c.2806T>C
ENST00000672071.1:n.3427T>C
ENST00000672695.1:n.406T>C
ENST00000672923.2:n.3229T>C
ENST00000268124.9:c.3229T>C	ENSP00000268124.5:p.Cys1077Arg
ENST00000442287.6:c.3229T>C	ENSP00000399851.2:p.Cys1077Arg
ENST00000530292.2:c.313T>C	ENSP00000432885.1:p.Cys105Arg
ENST00000631044.2:c.*2653T>C	ENSP00000486730.1:n.*2653T>C
NM_001126131.1:c.3229T>C	NP_001119603.1:p.Cys1077Arg
NM_002693.2:c.3229T>C	NP_002684.1:p.Cys1077Arg
NM_001126131.2:c.3229T>C	NP_001119603.1:p.Cys1077Arg
NM_002693.3:c.3229T>C MANE Select	NP_002684.1:p.Cys1077Arg