Canonical Allele Identifier: CA507685750

Gene: COQ8B

Linked Data

• MyVariant Identifiers: chr19:g.41198012G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.40692107G>T , CM000681.2:g.40692107G>T	GRCh38
NC_000019.9:g.41198012G>T , CM000681.1:g.41198012G>T	GRCh37
NC_000019.8:g.45889852G>T	NCBI36
NG_027800.1:g.29779C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000324464.8:c.1563C>A MANE Select	ENSP00000315118.3:p.Ala521=
ENST00000593724.2:n.3386C>A
ENST00000594490.6:c.1485C>A	ENSP00000471310.2:p.Ala495=
ENST00000594720.6:c.1563C>A	ENSP00000470876.2:p.Ala521=
ENST00000596455.6:n.1855C>A
ENST00000601967.6:c.1563C>A	ENSP00000470916.2:p.Ala521=
ENST00000676555.1:c.*988C>A	ENSP00000503387.1:n.*988C>A
ENST00000676578.1:c.*1305C>A	ENSP00000504076.1:n.*1305C>A
ENST00000676960.1:n.1688C>A
ENST00000676962.1:n.1842C>A
ENST00000677018.1:c.1563C>A	ENSP00000503480.1:p.Ala521=
ENST00000677039.1:n.3766C>A
ENST00000677399.1:n.2005C>A
ENST00000677496.1:c.1236C>A	ENSP00000504773.1:p.Ala412=
ENST00000677517.1:c.1236C>A	ENSP00000503519.1:p.Ala412=
ENST00000677633.1:c.*986C>A	ENSP00000503645.1:n.*986C>A
ENST00000677800.1:c.*4667C>A	ENSP00000503794.1:n.*4667C>A
ENST00000678057.1:c.*1127C>A	ENSP00000503762.1:n.*1127C>A
ENST00000678119.1:n.1757C>A
ENST00000678166.1:n.1706C>A
ENST00000678312.1:n.1900C>A
ENST00000678316.1:c.*986C>A	ENSP00000504112.1:n.*986C>A
ENST00000678371.1:n.2013C>A
ENST00000678404.1:c.1563C>A	ENSP00000503944.1:p.Ala521=
ENST00000678419.1:c.1563C>A	ENSP00000504085.1:p.Ala521=
ENST00000678433.1:n.1919C>A
ENST00000678467.1:c.1563C>A	ENSP00000504072.1:p.Ala521=
ENST00000678569.1:c.*548C>A	ENSP00000504261.1:n.*548C>A
ENST00000678961.1:n.1918C>A
ENST00000679002.1:n.1742C>A
ENST00000679012.1:c.1119C>A	ENSP00000504446.1:p.Ala373=
ENST00000679070.1:c.*982C>A	ENSP00000503759.1:n.*982C>A
ENST00000679130.1:c.1563C>A	ENSP00000504845.1:p.Ala521=
ENST00000679315.1:c.*1393C>A	ENSP00000503065.1:n.*1393C>A
ENST00000243583.10:c.1440C>A	ENSP00000243583.5:p.Ala480=
ENST00000324464.7:c.1563C>A	ENSP00000315118.3:p.Ala521=
ENST00000593724.1:n.1678C>A
NM_001142555.2:c.1440C>A	NP_001136027.1:p.Ala480=
NM_024876.3:c.1563C>A	NP_079152.3:p.Ala521=
XM_005259270.3:c.1725C>A	XP_005259327.2:p.Ala575=
XM_005259271.3:c.1563C>A	XP_005259328.1:p.Ala521=
XM_005259272.3:c.1563C>A	XP_005259329.1:p.Ala521=
XM_005259273.3:c.1563C>A	XP_005259330.1:p.Ala521=
XM_006723392.2:c.1563C>A	XP_006723455.1:p.Ala521=
XM_006723393.2:c.1563C>A	XP_006723456.1:p.Ala521=
XM_011527334.1:c.1563C>A	XP_011525636.1:p.Ala521=
XM_011527335.1:c.1422C>A	XP_011525637.1:p.Ala474=
XM_011527336.1:c.1593C>A	XP_011525638.1:p.Ala531=
XM_011527337.1:c.1563C>A	XP_011525639.1:p.Ala521=
XM_011527338.1:c.1563C>A	XP_011525640.1:p.Ala521=
NM_024876.4:c.1563C>A MANE Select	NP_079152.3:p.Ala521=
NM_001142555.3:c.1440C>A	NP_001136027.1:p.Ala480=