Canonical Allele Identifier: CA2245700242
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221609C= , CM000679.2:g.7221609C= GRCh38
NC_000017.10:g.7124928C= , CM000679.1:g.7124928C= GRCh37
NC_000017.9:g.7065652C= NCBI36
NG_007975.1:g.6776C=
NG_008391.2:g.3442G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.549C= MANE Select ENSP00000349297.5:p.Ser183=
ENST00000322910.9:c.*504C= ENSP00000325395.5:n.*504C=
ENST00000350303.9:c.483C= ENSP00000344152.5:p.Ser161=
ENST00000356839.9:c.549C= ENSP00000349297.5:p.Ser183=
ENST00000543245.6:c.618C= ENSP00000438689.2:p.Ser206=
ENST00000577191.5:n.626C=
ENST00000577433.5:n.757C=
ENST00000577857.5:n.365C=
ENST00000579286.5:n.730C=
ENST00000579886.2:c.387C= ENSP00000463246.1:p.Ser129=
ENST00000580365.1:n.280C=
ENST00000581378.5:c.267C=
ENST00000581562.5:n.525-343C=
ENST00000582166.1:n.530C=
ENST00000583312.5:c.549C= ENSP00000467920.1:p.Ser183=
ENST00000583760.1:n.331C=
NM_000018.3:c.549C= NP_000009.1:p.Ser183=
NM_001033859.2:c.483C= NP_001029031.1:p.Ser161=
NM_001270447.1:c.618C= NP_001257376.1:p.Ser206=
NM_001270448.1:c.321C= NP_001257377.1:p.Ser107=
XM_006721516.2:c.549C= XP_006721579.2:p.Ser183=
XM_011523829.1:c.549C= XP_011522131.1:p.Ser183=
XM_011523830.1:c.549C= XP_011522132.1:p.Ser183=
XR_934021.1:n.656C=
XR_934022.1:n.656C=
XR_934023.1:n.656C=
XM_006721516.3:c.549C= XP_006721579.2:p.Ser183=
XM_011523829.2:c.549C= XP_011522131.1:p.Ser183=
XM_011523830.2:c.549C= XP_011522132.1:p.Ser183=
XM_024450741.1:c.549C= XP_024306509.1:p.Ser183=
XR_934021.2:n.608C=
XR_934022.2:n.608C=
XR_934023.2:n.608C=
NM_000018.4:c.549C= MANE Select NP_000009.1:p.Ser183=
NM_001033859.3:c.483C= NP_001029031.1:p.Ser161=
NM_001270447.2:c.618C= NP_001257376.1:p.Ser206=
NM_001270448.2:c.321C= NP_001257377.1:p.Ser107=