Canonical Allele Identifier: CA405957307

Gene: COQ8B

Linked Data

• dbSNP Id: rs1328829336
• gnomAD v2: 19-41197975-G-T
• MyVariant Identifiers: chr19:g.41197975G>T (hg19) ; chr19:g.40692070G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40692070G>T , CM000681.2:g.40692070G>T	GRCh38
NC_000019.9:g.41197975G>T , CM000681.1:g.41197975G>T	GRCh37
NC_000019.8:g.45889815G>T	NCBI36
NG_027800.1:g.29816C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324464.8:c.1600C>A MANE Select	ENSP00000315118.3:p.Pro534Thr
ENST00000593724.2:n.3423C>A
ENST00000594490.6:c.1522C>A	ENSP00000471310.2:p.Pro508Thr
ENST00000594720.6:c.1600C>A	ENSP00000470876.2:p.Pro534Thr
ENST00000596455.6:n.1892C>A
ENST00000601967.6:c.1600C>A	ENSP00000470916.2:p.Pro534Thr
ENST00000676555.1:c.*1025C>A	ENSP00000503387.1:n.*1025C>A
ENST00000676578.1:c.*1342C>A	ENSP00000504076.1:n.*1342C>A
ENST00000676960.1:n.1725C>A
ENST00000676962.1:n.1879C>A
ENST00000677018.1:c.1600C>A	ENSP00000503480.1:p.Pro534Thr
ENST00000677039.1:n.3803C>A
ENST00000677399.1:n.2042C>A
ENST00000677496.1:c.1273C>A	ENSP00000504773.1:p.Pro425Thr
ENST00000677517.1:c.1273C>A	ENSP00000503519.1:p.Pro425Thr
ENST00000677633.1:c.*1023C>A	ENSP00000503645.1:n.*1023C>A
ENST00000677800.1:c.*4704C>A	ENSP00000503794.1:n.*4704C>A
ENST00000678057.1:c.*1164C>A	ENSP00000503762.1:n.*1164C>A
ENST00000678119.1:n.1794C>A
ENST00000678166.1:n.1743C>A
ENST00000678312.1:n.1937C>A
ENST00000678316.1:c.*1023C>A	ENSP00000504112.1:n.*1023C>A
ENST00000678371.1:n.2050C>A
ENST00000678404.1:c.1600C>A	ENSP00000503944.1:p.Pro534Thr
ENST00000678419.1:c.1600C>A	ENSP00000504085.1:p.Pro534Thr
ENST00000678433.1:n.1956C>A
ENST00000678467.1:c.1600C>A	ENSP00000504072.1:p.Pro534Thr
ENST00000678569.1:c.*585C>A	ENSP00000504261.1:n.*585C>A
ENST00000678961.1:n.1955C>A
ENST00000679002.1:n.1779C>A
ENST00000679012.1:c.1156C>A	ENSP00000504446.1:p.Pro386Thr
ENST00000679070.1:c.*1019C>A	ENSP00000503759.1:n.*1019C>A
ENST00000679130.1:c.1600C>A	ENSP00000504845.1:p.Pro534Thr
ENST00000679315.1:c.*1430C>A	ENSP00000503065.1:n.*1430C>A
ENST00000243583.10:c.1477C>A	ENSP00000243583.5:p.Pro493Thr
ENST00000324464.7:c.1600C>A	ENSP00000315118.3:p.Pro534Thr
ENST00000593724.1:n.1715C>A
NM_001142555.2:c.1477C>A	NP_001136027.1:p.Pro493Thr
NM_024876.3:c.1600C>A	NP_079152.3:p.Pro534Thr
XM_005259270.3:c.1762C>A	XP_005259327.2:p.Pro588Thr
XM_005259271.3:c.1600C>A	XP_005259328.1:p.Pro534Thr
XM_005259272.3:c.1600C>A	XP_005259329.1:p.Pro534Thr
XM_005259273.3:c.1600C>A	XP_005259330.1:p.Pro534Thr
XM_006723392.2:c.1600C>A	XP_006723455.1:p.Pro534Thr
XM_006723393.2:c.1600C>A	XP_006723456.1:p.Pro534Thr
XM_011527334.1:c.1600C>A	XP_011525636.1:p.Pro534Thr
XM_011527335.1:c.1459C>A	XP_011525637.1:p.Pro487Thr
XM_011527336.1:c.1630C>A	XP_011525638.1:p.Pro544Thr
XM_011527337.1:c.1600C>A	XP_011525639.1:p.Pro534Thr
XM_011527338.1:c.1600C>A	XP_011525640.1:p.Pro534Thr
NM_024876.4:c.1600C>A MANE Select	NP_079152.3:p.Pro534Thr
NM_001142555.3:c.1477C>A	NP_001136027.1:p.Pro493Thr