Canonical Allele Identifier: CA292856

Gene: POLG

Linked Data

• ClinVar Variation Id: 138766
• ClinVar RCV Id: RCV000127547 ; RCV000231024 ; RCV000676316 ; RCV001117760
• dbSNP Id: rs2307443
• ExAC: 15:89860653 G / T
• gnomAD v2: 15-89860653-G-T
• gnomAD v3: 15-89317422-G-T
• gnomAD v4: 15-89317422-G-T
• MyVariant Identifiers: chr15:g.89860653G>T (hg19) ; chr15:g.89317422G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317422G>T , CM000677.2:g.89317422G>T	GRCh38
NC_000015.9:g.89860653G>T , CM000677.1:g.89860653G>T	GRCh37
NC_000015.8:g.87661657G>T	NCBI36
NG_008218.1:g.22374C>A
NG_011736.1:g.78460G>T , LRG_500:g.78460G>T
NG_008218.2:g.22374C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000636937.2:c.3597C>A	ENSP00000516154.1:p.Thr1199=
ENST00000268124.11:c.3597C>A MANE Select	ENSP00000268124.5:p.Thr1199=
ENST00000530292.3:c.3297C>A	ENSP00000432885.2:n.3297C>A
ENST00000635986.2:c.*667C>A	ENSP00000490653.2:n.*667C>A
ENST00000636774.1:c.*2201C>A	ENSP00000489799.1:n.*2201C>A
ENST00000637238.1:c.2505C>A	ENSP00000490756.1:n.2505C>A
ENST00000637264.1:c.2609C>A
ENST00000666746.1:c.3174C>A
ENST00000672071.1:n.4799C>A
ENST00000672695.1:n.1376C>A
ENST00000672923.2:n.3597C>A
ENST00000268124.9:c.3597C>A	ENSP00000268124.5:p.Thr1199=
ENST00000442287.6:c.3597C>A	ENSP00000399851.2:p.Thr1199=
ENST00000526671.1:n.407C>A
ENST00000530292.2:c.780C>A	ENSP00000432885.1:n.780C>A
ENST00000631044.2:c.*3021C>A	ENSP00000486730.1:n.*3021C>A
NM_001126131.1:c.3597C>A	NP_001119603.1:p.Thr1199=
NM_002693.2:c.3597C>A	NP_002684.1:p.Thr1199=
NM_001126131.2:c.3597C>A	NP_001119603.1:p.Thr1199=
NM_002693.3:c.3597C>A MANE Select	NP_002684.1:p.Thr1199=