Canonical Allele Identifier: CA2245699149
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7220911G= , CM000679.2:g.7220911G= GRCh38
NC_000017.10:g.7124230G= , CM000679.1:g.7124230G= GRCh37
NC_000017.9:g.7064954G= NCBI36
NG_007975.1:g.6078G=
NG_008391.2:g.4140C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.343-13G= MANE Select ENSP00000349297.5:n.343-13G=
ENST00000322910.9:c.*298-13G= ENSP00000325395.5:n.*298-13G=
ENST00000350303.9:c.277-13G= ENSP00000344152.5:n.277-13G=
ENST00000356839.9:c.343-13G= ENSP00000349297.5:n.343-13G=
ENST00000543245.6:c.412-13G= ENSP00000438689.2:n.412-13G=
ENST00000577191.5:n.420-13G=
ENST00000577433.5:n.551-13G=
ENST00000577857.5:n.293+81G=
ENST00000579286.5:n.524-13G=
ENST00000579886.2:c.202-34G= ENSP00000463246.1:n.202-34G=
ENST00000580365.1:n.74-13G=
ENST00000581378.5:c.42-13G=
ENST00000581562.5:n.390-13G=
ENST00000582056.5:n.513G=
ENST00000582166.1:n.311G=
ENST00000582356.5:n.622G=
ENST00000583312.5:c.343-13G= ENSP00000467920.1:n.343-13G=
ENST00000584103.5:c.363G= ENSP00000465353.1:p.Leu121=
NM_000018.3:c.343-13G= NP_000009.1:n.343-13G=
NM_001033859.2:c.277-13G= NP_001029031.1:n.277-13G=
NM_001270447.1:c.412-13G= NP_001257376.1:n.412-13G=
NM_001270448.1:c.115-13G= NP_001257377.1:n.115-13G=
XM_006721516.2:c.343-13G= XP_006721579.2:n.343-13G=
XM_011523829.1:c.343-13G= XP_011522131.1:n.343-13G=
XM_011523830.1:c.343-13G= XP_011522132.1:n.343-13G=
XR_934021.1:n.450-13G=
XR_934022.1:n.450-13G=
XR_934023.1:n.450-13G=
XM_006721516.3:c.343-13G= XP_006721579.2:n.343-13G=
XM_011523829.2:c.343-13G= XP_011522131.1:n.343-13G=
XM_011523830.2:c.343-13G= XP_011522132.1:n.343-13G=
XM_024450741.1:c.343-13G= XP_024306509.1:n.343-13G=
XR_934021.2:n.402-13G=
XR_934022.2:n.402-13G=
XR_934023.2:n.402-13G=
NM_000018.4:c.343-13G= MANE Select NP_000009.1:n.343-13G=
NM_001033859.3:c.277-13G= NP_001029031.1:n.277-13G=
NM_001270447.2:c.412-13G= NP_001257376.1:n.412-13G=
NM_001270448.2:c.115-13G= NP_001257377.1:n.115-13G=