Canonical Allele Identifier: CA2245700398
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221658A= , CM000679.2:g.7221658A= GRCh38
NC_000017.10:g.7124977A= , CM000679.1:g.7124977A= GRCh37
NC_000017.9:g.7065701A= NCBI36
NG_007975.1:g.6825A=
NG_008391.2:g.3393T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.598A= MANE Select ENSP00000349297.5:p.Lys200=
ENST00000322910.9:c.*553A= ENSP00000325395.5:n.*553A=
ENST00000350303.9:c.532A= ENSP00000344152.5:p.Lys178=
ENST00000356839.9:c.598A= ENSP00000349297.5:p.Lys200=
ENST00000543245.6:c.667A= ENSP00000438689.2:p.Lys223=
ENST00000577191.5:n.675A=
ENST00000577857.5:n.414A=
ENST00000579286.5:n.779A=
ENST00000579886.2:c.436A= ENSP00000463246.1:p.Lys146=
ENST00000580365.1:n.329A=
ENST00000581378.5:c.316A=
ENST00000581562.5:n.525-294A=
ENST00000583312.5:c.598A= ENSP00000467920.1:p.Lys200=
ENST00000583760.1:n.380A=
NM_000018.3:c.598A= NP_000009.1:p.Lys200=
NM_001033859.2:c.532A= NP_001029031.1:p.Lys178=
NM_001270447.1:c.667A= NP_001257376.1:p.Lys223=
NM_001270448.1:c.370A= NP_001257377.1:p.Lys124=
XM_006721516.2:c.598A= XP_006721579.2:p.Lys200=
XM_011523829.1:c.598A= XP_011522131.1:p.Lys200=
XM_011523830.1:c.598A= XP_011522132.1:p.Lys200=
XR_934021.1:n.705A=
XR_934022.1:n.705A=
XR_934023.1:n.705A=
XM_006721516.3:c.598A= XP_006721579.2:p.Lys200=
XM_011523829.2:c.598A= XP_011522131.1:p.Lys200=
XM_011523830.2:c.598A= XP_011522132.1:p.Lys200=
XM_024450741.1:c.598A= XP_024306509.1:p.Lys200=
XR_934021.2:n.657A=
XR_934022.2:n.657A=
XR_934023.2:n.657A=
NM_000018.4:c.598A= MANE Select NP_000009.1:p.Lys200=
NM_001033859.3:c.532A= NP_001029031.1:p.Lys178=
NM_001270447.2:c.667A= NP_001257376.1:p.Lys223=
NM_001270448.2:c.370A= NP_001257377.1:p.Lys124=