Canonical Allele Identifier: CA316790

Gene: POLG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89317389G>C , CM000677.2:g.89317389G>C	GRCh38
NC_000015.9:g.89860620G>C , CM000677.1:g.89860620G>C	GRCh37
NC_000015.8:g.87661624G>C	NCBI36
NG_008218.1:g.22407C>G
NG_011736.1:g.78427G>C , LRG_500:g.78427G>C
NG_008218.2:g.22407C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000636937.2:c.3630C>G	ENSP00000516154.1:p.Tyr1210Ter
ENST00000268124.11:c.3630C>G MANE Select	ENSP00000268124.5:p.Tyr1210Ter
ENST00000530292.3:c.3330C>G	ENSP00000432885.2:n.3330C>G
ENST00000635986.2:c.*700C>G	ENSP00000490653.2:n.*700C>G
ENST00000636774.1:c.*2234C>G	ENSP00000489799.1:n.*2234C>G
ENST00000637238.1:c.2538C>G	ENSP00000490756.1:n.2538C>G
ENST00000637264.1:c.2642C>G
ENST00000666746.1:c.3207C>G
ENST00000672071.1:n.4832C>G
ENST00000672695.1:n.1409C>G
ENST00000672923.2:n.3630C>G
ENST00000268124.9:c.3630C>G	ENSP00000268124.5:p.Tyr1210Ter
ENST00000442287.6:c.3630C>G	ENSP00000399851.2:p.Tyr1210Ter
ENST00000526671.1:n.440C>G
ENST00000530292.2:c.813C>G	ENSP00000432885.1:n.813C>G
ENST00000631044.2:c.*3054C>G	ENSP00000486730.1:n.*3054C>G
NM_001126131.1:c.3630C>G	NP_001119603.1:p.Tyr1210Ter
NM_002693.2:c.3630C>G	NP_002684.1:p.Tyr1210Ter
NM_001126131.2:c.3630C>G	NP_001119603.1:p.Tyr1210Ter
NM_002693.3:c.3630C>G MANE Select	NP_002684.1:p.Tyr1210Ter