Canonical Allele Identifier: CA393747444

Gene: POLG

Linked Data

• gnomAD v4: 15-89317441-A-G
• MyVariant Identifiers: chr15:g.89860672A>G (hg19) ; chr15:g.89317441A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317441A>G , CM000677.2:g.89317441A>G	GRCh38
NC_000015.9:g.89860672A>G , CM000677.1:g.89860672A>G	GRCh37
NC_000015.8:g.87661676A>G	NCBI36
NG_008218.1:g.22355T>C
NG_011736.1:g.78479A>G , LRG_500:g.78479A>G
NG_008218.2:g.22355T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.3578T>C	ENSP00000516154.1:p.Val1193Ala
ENST00000268124.11:c.3578T>C MANE Select	ENSP00000268124.5:p.Val1193Ala
ENST00000530292.3:c.3278T>C	ENSP00000432885.2:n.3278T>C
ENST00000635986.2:c.*648T>C	ENSP00000490653.2:n.*648T>C
ENST00000636774.1:c.*2182T>C	ENSP00000489799.1:n.*2182T>C
ENST00000637238.1:c.2486T>C	ENSP00000490756.1:n.2486T>C
ENST00000637264.1:c.2590T>C
ENST00000666746.1:c.3155T>C
ENST00000672071.1:n.4780T>C
ENST00000672695.1:n.1357T>C
ENST00000672923.2:n.3578T>C
ENST00000268124.9:c.3578T>C	ENSP00000268124.5:p.Val1193Ala
ENST00000442287.6:c.3578T>C	ENSP00000399851.2:p.Val1193Ala
ENST00000526671.1:n.388T>C
ENST00000530292.2:c.761T>C	ENSP00000432885.1:n.761T>C
ENST00000631044.2:c.*3002T>C	ENSP00000486730.1:n.*3002T>C
NM_001126131.1:c.3578T>C	NP_001119603.1:p.Val1193Ala
NM_002693.2:c.3578T>C	NP_002684.1:p.Val1193Ala
NM_001126131.2:c.3578T>C	NP_001119603.1:p.Val1193Ala
NM_002693.3:c.3578T>C MANE Select	NP_002684.1:p.Val1193Ala