Canonical Allele Identifier: CA2585172138

Gene: COQ8B

Linked Data

• gnomAD v4: 19-40692113-G-GT

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40692114dup , CM000681.2:g.40692114dup	GRCh38
NC_000019.9:g.41198019dup , CM000681.1:g.41198019dup	GRCh37
NC_000019.8:g.45889859dup	NCBI36
NG_027800.1:g.29772dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324464.8:c.1556dup MANE Select	ENSP00000315118.3:p.Tyr519Ter
ENST00000593724.2:n.3379dup
ENST00000594490.6:c.1478dup	ENSP00000471310.2:p.Tyr493Ter
ENST00000594720.6:c.1556dup	ENSP00000470876.2:p.Tyr519Ter
ENST00000596455.6:n.1848dup
ENST00000601967.6:c.1556dup	ENSP00000470916.2:p.Tyr519Ter
ENST00000676555.1:c.*981dup	ENSP00000503387.1:n.*981dup
ENST00000676578.1:c.*1298dup	ENSP00000504076.1:n.*1298dup
ENST00000676960.1:n.1681dup
ENST00000676962.1:n.1835dup
ENST00000677018.1:c.1556dup	ENSP00000503480.1:p.Tyr519Ter
ENST00000677039.1:n.3759dup
ENST00000677399.1:n.1998dup
ENST00000677496.1:c.1229dup	ENSP00000504773.1:p.Tyr410Ter
ENST00000677517.1:c.1229dup	ENSP00000503519.1:p.Tyr410Ter
ENST00000677633.1:c.*979dup	ENSP00000503645.1:n.*979dup
ENST00000677800.1:c.*4660dup	ENSP00000503794.1:n.*4660dup
ENST00000678057.1:c.*1120dup	ENSP00000503762.1:n.*1120dup
ENST00000678119.1:n.1750dup
ENST00000678166.1:n.1699dup
ENST00000678312.1:n.1893dup
ENST00000678316.1:c.*979dup	ENSP00000504112.1:n.*979dup
ENST00000678371.1:n.2006dup
ENST00000678404.1:c.1556dup	ENSP00000503944.1:p.Tyr519Ter
ENST00000678419.1:c.1556dup	ENSP00000504085.1:p.Tyr519Ter
ENST00000678433.1:n.1912dup
ENST00000678467.1:c.1556dup	ENSP00000504072.1:p.Tyr519Ter
ENST00000678569.1:c.*541dup	ENSP00000504261.1:n.*541dup
ENST00000678961.1:n.1911dup
ENST00000679002.1:n.1735dup
ENST00000679012.1:c.1112dup	ENSP00000504446.1:p.Tyr371Ter
ENST00000679070.1:c.*975dup	ENSP00000503759.1:n.*975dup
ENST00000679130.1:c.1556dup	ENSP00000504845.1:p.Tyr519Ter
ENST00000679315.1:c.*1386dup	ENSP00000503065.1:n.*1386dup
ENST00000243583.10:c.1433dup	ENSP00000243583.5:p.Tyr478Ter
ENST00000324464.7:c.1556dup	ENSP00000315118.3:p.Tyr519Ter
ENST00000593724.1:n.1671dup
NM_001142555.2:c.1433dup	NP_001136027.1:p.Tyr478Ter
NM_024876.3:c.1556dup	NP_079152.3:p.Tyr519Ter
XM_005259270.3:c.1718dup	XP_005259327.2:p.Tyr573Ter
XM_005259271.3:c.1556dup	XP_005259328.1:p.Tyr519Ter
XM_005259272.3:c.1556dup	XP_005259329.1:p.Tyr519Ter
XM_005259273.3:c.1556dup	XP_005259330.1:p.Tyr519Ter
XM_006723392.2:c.1556dup	XP_006723455.1:p.Tyr519Ter
XM_006723393.2:c.1556dup	XP_006723456.1:p.Tyr519Ter
XM_011527334.1:c.1556dup	XP_011525636.1:p.Tyr519Ter
XM_011527335.1:c.1415dup	XP_011525637.1:p.Tyr472Ter
XM_011527336.1:c.1586dup	XP_011525638.1:p.Tyr529Ter
XM_011527337.1:c.1556dup	XP_011525639.1:p.Tyr519Ter
XM_011527338.1:c.1556dup	XP_011525640.1:p.Tyr519Ter
NM_024876.4:c.1556dup MANE Select	NP_079152.3:p.Tyr519Ter
NM_001142555.3:c.1433dup	NP_001136027.1:p.Tyr478Ter