Canonical Allele Identifier: CA2245700860
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221992C= , CM000679.2:g.7221992C= GRCh38
NC_000017.10:g.7125311C= , CM000679.1:g.7125311C= GRCh37
NC_000017.9:g.7066035C= NCBI36
NG_007975.1:g.7159C=
NG_008391.2:g.3059G=

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.663C= MANE Select ENSP00000349297.5:p.Ser221=
ENST00000322910.9:c.*618C= ENSP00000325395.5:n.*618C=
ENST00000350303.9:c.597C= ENSP00000344152.5:p.Ser199=
ENST00000356839.9:c.663C= ENSP00000349297.5:p.Ser221=
ENST00000543245.6:c.732C= ENSP00000438689.2:p.Ser244=
ENST00000577191.5:n.740C=
ENST00000577857.5:n.479C=
ENST00000579286.5:n.844C=
ENST00000580365.1:n.394C=
ENST00000581378.5:c.381C=
ENST00000581562.5:n.565C=
ENST00000582379.1:n.47C=
ENST00000583760.1:n.445C=
NM_000018.3:c.663C= NP_000009.1:p.Ser221=
NM_001033859.2:c.597C= NP_001029031.1:p.Ser199=
NM_001270447.1:c.732C= NP_001257376.1:p.Ser244=
NM_001270448.1:c.435C= NP_001257377.1:p.Ser145=
XM_006721516.2:c.663C= XP_006721579.2:p.Ser221=
XM_011523829.1:c.663C= XP_011522131.1:p.Ser221=
XM_011523830.1:c.663C= XP_011522132.1:p.Ser221=
XR_934021.1:n.770C=
XR_934022.1:n.770C=
XR_934023.1:n.770C=
XM_006721516.3:c.663C= XP_006721579.2:p.Ser221=
XM_011523829.2:c.663C= XP_011522131.1:p.Ser221=
XM_011523830.2:c.663C= XP_011522132.1:p.Ser221=
XM_024450741.1:c.663C= XP_024306509.1:p.Ser221=
XR_934021.2:n.722C=
XR_934022.2:n.722C=
XR_934023.2:n.722C=
NM_000018.4:c.663C= MANE Select NP_000009.1:p.Ser221=
NM_001033859.3:c.597C= NP_001029031.1:p.Ser199=
NM_001270447.2:c.732C= NP_001257376.1:p.Ser244=
NM_001270448.2:c.435C= NP_001257377.1:p.Ser145=