Canonical Allele Identifier: CA9450150

Gene: COQ8B

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40700085A>G , CM000681.2:g.40700085A>G	GRCh38
NC_000019.9:g.41205990A>G , CM000681.1:g.41205990A>G	GRCh37
NC_000019.8:g.45897830A>G	NCBI36
NG_027800.1:g.21801T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324464.8:c.1125T>C MANE Select	ENSP00000315118.3:p.Tyr375=
ENST00000593724.2:n.2948T>C
ENST00000594490.6:c.1047T>C	ENSP00000471310.2:p.Tyr349=
ENST00000594720.6:c.1125T>C	ENSP00000470876.2:p.Tyr375=
ENST00000596455.6:n.1417T>C
ENST00000601967.6:c.1125T>C	ENSP00000470916.2:p.Tyr375=
ENST00000676555.1:c.1125T>C	ENSP00000503387.1:p.Tyr375=
ENST00000676578.1:c.*867T>C	ENSP00000504076.1:n.*867T>C
ENST00000676960.1:n.1250T>C
ENST00000676962.1:n.1404T>C
ENST00000677018.1:c.1125T>C	ENSP00000503480.1:p.Tyr375=
ENST00000677039.1:n.3328T>C
ENST00000677399.1:n.1567T>C
ENST00000677496.1:c.798T>C	ENSP00000504773.1:p.Tyr266=
ENST00000677517.1:c.798T>C	ENSP00000503519.1:p.Tyr266=
ENST00000677633.1:c.*548T>C	ENSP00000503645.1:n.*548T>C
ENST00000677800.1:c.*4229T>C	ENSP00000503794.1:n.*4229T>C
ENST00000678057.1:c.*689T>C	ENSP00000503762.1:n.*689T>C
ENST00000678119.1:n.1319T>C
ENST00000678166.1:n.1268T>C
ENST00000678312.1:n.1462T>C
ENST00000678316.1:c.*548T>C	ENSP00000504112.1:n.*548T>C
ENST00000678371.1:n.1575T>C
ENST00000678404.1:c.1125T>C	ENSP00000503944.1:p.Tyr375=
ENST00000678419.1:c.1125T>C	ENSP00000504085.1:p.Tyr375=
ENST00000678433.1:n.1481T>C
ENST00000678467.1:c.1125T>C	ENSP00000504072.1:p.Tyr375=
ENST00000678569.1:c.*110T>C	ENSP00000504261.1:n.*110T>C
ENST00000678961.1:n.1480T>C
ENST00000679002.1:n.1304T>C
ENST00000679012.1:c.681T>C	ENSP00000504446.1:p.Tyr227=
ENST00000679070.1:c.*544T>C	ENSP00000503759.1:n.*544T>C
ENST00000679130.1:c.1125T>C	ENSP00000504845.1:p.Tyr375=
ENST00000679315.1:c.*955T>C	ENSP00000503065.1:n.*955T>C
ENST00000243583.10:c.1002T>C	ENSP00000243583.5:p.Tyr334=
ENST00000324464.7:c.1125T>C	ENSP00000315118.3:p.Tyr375=
ENST00000593724.1:n.1240T>C
NM_001142555.2:c.1002T>C	NP_001136027.1:p.Tyr334=
NM_024876.3:c.1125T>C	NP_079152.3:p.Tyr375=
XM_005259270.3:c.1287T>C	XP_005259327.2:p.Tyr429=
XM_005259271.3:c.1125T>C	XP_005259328.1:p.Tyr375=
XM_005259272.3:c.1125T>C	XP_005259329.1:p.Tyr375=
XM_005259273.3:c.1125T>C	XP_005259330.1:p.Tyr375=
XM_006723392.2:c.1125T>C	XP_006723455.1:p.Tyr375=
XM_006723393.2:c.1125T>C	XP_006723456.1:p.Tyr375=
XM_011527334.1:c.1125T>C	XP_011525636.1:p.Tyr375=
XM_011527335.1:c.984T>C	XP_011525637.1:p.Tyr328=
XM_011527336.1:c.1155T>C	XP_011525638.1:p.Tyr385=
XM_011527337.1:c.1125T>C	XP_011525639.1:p.Tyr375=
XM_011527338.1:c.1125T>C	XP_011525640.1:p.Tyr375=
NM_024876.4:c.1125T>C MANE Select	NP_079152.3:p.Tyr375=
NM_001142555.3:c.1002T>C	NP_001136027.1:p.Tyr334=