Canonical Allele Identifier: CA405957474

Gene: COQ8B

Linked Data

• MyVariant Identifiers: chr19:g.41198052C>T (hg19) ; chr19:g.40692147C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40692147C>T , CM000681.2:g.40692147C>T	GRCh38
NC_000019.9:g.41198052C>T , CM000681.1:g.41198052C>T	GRCh37
NC_000019.8:g.45889892C>T	NCBI36
NG_027800.1:g.29739G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000324464.8:c.1523G>A MANE Select	ENSP00000315118.3:p.Cys508Tyr
ENST00000593724.2:n.3346G>A
ENST00000594490.6:c.1445G>A	ENSP00000471310.2:p.Cys482Tyr
ENST00000594720.6:c.1523G>A	ENSP00000470876.2:p.Cys508Tyr
ENST00000596455.6:n.1815G>A
ENST00000601967.6:c.1523G>A	ENSP00000470916.2:p.Cys508Tyr
ENST00000676555.1:c.*948G>A	ENSP00000503387.1:n.*948G>A
ENST00000676578.1:c.*1265G>A	ENSP00000504076.1:n.*1265G>A
ENST00000676960.1:n.1648G>A
ENST00000676962.1:n.1802G>A
ENST00000677018.1:c.1523G>A	ENSP00000503480.1:p.Cys508Tyr
ENST00000677039.1:n.3726G>A
ENST00000677399.1:n.1965G>A
ENST00000677496.1:c.1196G>A	ENSP00000504773.1:p.Cys399Tyr
ENST00000677517.1:c.1196G>A	ENSP00000503519.1:p.Cys399Tyr
ENST00000677633.1:c.*946G>A	ENSP00000503645.1:n.*946G>A
ENST00000677800.1:c.*4627G>A	ENSP00000503794.1:n.*4627G>A
ENST00000678057.1:c.*1087G>A	ENSP00000503762.1:n.*1087G>A
ENST00000678119.1:n.1717G>A
ENST00000678166.1:n.1666G>A
ENST00000678312.1:n.1860G>A
ENST00000678316.1:c.*946G>A	ENSP00000504112.1:n.*946G>A
ENST00000678371.1:n.1973G>A
ENST00000678404.1:c.1523G>A	ENSP00000503944.1:p.Cys508Tyr
ENST00000678419.1:c.1523G>A	ENSP00000504085.1:p.Cys508Tyr
ENST00000678433.1:n.1879G>A
ENST00000678467.1:c.1523G>A	ENSP00000504072.1:p.Cys508Tyr
ENST00000678569.1:c.*508G>A	ENSP00000504261.1:n.*508G>A
ENST00000678961.1:n.1878G>A
ENST00000679002.1:n.1702G>A
ENST00000679012.1:c.1079G>A	ENSP00000504446.1:p.Cys360Tyr
ENST00000679070.1:c.*942G>A	ENSP00000503759.1:n.*942G>A
ENST00000679130.1:c.1523G>A	ENSP00000504845.1:p.Cys508Tyr
ENST00000679315.1:c.*1353G>A	ENSP00000503065.1:n.*1353G>A
ENST00000243583.10:c.1400G>A	ENSP00000243583.5:p.Cys467Tyr
ENST00000324464.7:c.1523G>A	ENSP00000315118.3:p.Cys508Tyr
ENST00000593724.1:n.1638G>A
NM_001142555.2:c.1400G>A	NP_001136027.1:p.Cys467Tyr
NM_024876.3:c.1523G>A	NP_079152.3:p.Cys508Tyr
XM_005259270.3:c.1685G>A	XP_005259327.2:p.Cys562Tyr
XM_005259271.3:c.1523G>A	XP_005259328.1:p.Cys508Tyr
XM_005259272.3:c.1523G>A	XP_005259329.1:p.Cys508Tyr
XM_005259273.3:c.1523G>A	XP_005259330.1:p.Cys508Tyr
XM_006723392.2:c.1523G>A	XP_006723455.1:p.Cys508Tyr
XM_006723393.2:c.1523G>A	XP_006723456.1:p.Cys508Tyr
XM_011527334.1:c.1523G>A	XP_011525636.1:p.Cys508Tyr
XM_011527335.1:c.1382G>A	XP_011525637.1:p.Cys461Tyr
XM_011527336.1:c.1553G>A	XP_011525638.1:p.Cys518Tyr
XM_011527337.1:c.1523G>A	XP_011525639.1:p.Cys508Tyr
XM_011527338.1:c.1523G>A	XP_011525640.1:p.Cys508Tyr
NM_024876.4:c.1523G>A MANE Select	NP_079152.3:p.Cys508Tyr
NM_001142555.3:c.1400G>A	NP_001136027.1:p.Cys467Tyr