Canonical Allele Identifier: CA2245711509
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223674G= , CM000679.2:g.7223674G= GRCh38
NC_000017.10:g.7126993G= , CM000679.1:g.7126993G= GRCh37
NC_000017.9:g.7067717G= NCBI36
NG_007975.1:g.8841G=
NG_008391.2:g.1377C=
NG_033038.1:g.15871C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1213G= MANE Select ENSP00000349297.5:p.Asp405=
ENST00000322910.9:c.*1168G= ENSP00000325395.5:n.*1168G=
ENST00000350303.9:c.1147G= ENSP00000344152.5:p.Asp383=
ENST00000356839.9:c.1213G= ENSP00000349297.5:p.Asp405=
ENST00000542255.6:c.71G=
ENST00000543245.6:c.1282G= ENSP00000438689.2:p.Asp428=
ENST00000578579.2:n.384G=
ENST00000578711.1:n.170G=
ENST00000578824.5:n.629G=
ENST00000579425.5:n.237G=
ENST00000579546.1:c.50G=
ENST00000583858.5:c.242G=
ENST00000585203.6:n.421G=
NM_000018.3:c.1213G= NP_000009.1:p.Asp405=
NM_001033859.2:c.1147G= NP_001029031.1:p.Asp383=
NM_001270447.1:c.1282G= NP_001257376.1:p.Asp428=
NM_001270448.1:c.985G= NP_001257377.1:p.Asp329=
XM_006721516.2:c.1213G= XP_006721579.2:p.Asp405=
XM_011523829.1:c.1213G= XP_011522131.1:p.Asp405=
XM_011523830.1:c.1213G= XP_011522132.1:p.Asp405=
XR_934021.1:n.1320G=
XR_934022.1:n.1320G=
XR_934023.1:n.1320G=
XM_006721516.3:c.1213G= XP_006721579.2:p.Asp405=
XM_011523829.2:c.1213G= XP_011522131.1:p.Asp405=
XM_011523830.2:c.1213G= XP_011522132.1:p.Asp405=
XM_024450741.1:c.1213G= XP_024306509.1:p.Asp405=
XR_934021.2:n.1272G=
XR_934022.2:n.1272G=
XR_934023.2:n.1272G=
NM_000018.4:c.1213G= MANE Select NP_000009.1:p.Asp405=
NM_001033859.3:c.1147G= NP_001029031.1:p.Asp383=
NM_001270447.2:c.1282G= NP_001257376.1:p.Asp428=
NM_001270448.2:c.985G= NP_001257377.1:p.Asp329=