Canonical Allele Identifier: CA2245699990
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221538T= , CM000679.2:g.7221538T= GRCh38
NC_000017.10:g.7124857T= , CM000679.1:g.7124857T= GRCh37
NC_000017.9:g.7065581T= NCBI36
NG_007975.1:g.6705T=
NG_008391.2:g.3513A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.478T= MANE Select ENSP00000349297.5:p.Tyr160=
ENST00000322910.9:c.*433T= ENSP00000325395.5:n.*433T=
ENST00000350303.9:c.412T= ENSP00000344152.5:p.Tyr138=
ENST00000356839.9:c.478T= ENSP00000349297.5:p.Tyr160=
ENST00000543245.6:c.547T= ENSP00000438689.2:p.Tyr183=
ENST00000577191.5:n.555T=
ENST00000577433.5:n.686T=
ENST00000577857.5:n.294T=
ENST00000579286.5:n.659T=
ENST00000579886.2:c.316T= ENSP00000463246.1:p.Tyr106=
ENST00000580365.1:n.209T=
ENST00000581378.5:c.196T=
ENST00000581562.5:n.525-414T=
ENST00000582166.1:n.459T=
ENST00000583312.5:c.478T= ENSP00000467920.1:p.Tyr160=
ENST00000583760.1:n.260T=
NM_000018.3:c.478T= NP_000009.1:p.Tyr160=
NM_001033859.2:c.412T= NP_001029031.1:p.Tyr138=
NM_001270447.1:c.547T= NP_001257376.1:p.Tyr183=
NM_001270448.1:c.250T= NP_001257377.1:p.Tyr84=
XM_006721516.2:c.478T= XP_006721579.2:p.Tyr160=
XM_011523829.1:c.478T= XP_011522131.1:p.Tyr160=
XM_011523830.1:c.478T= XP_011522132.1:p.Tyr160=
XR_934021.1:n.585T=
XR_934022.1:n.585T=
XR_934023.1:n.585T=
XM_006721516.3:c.478T= XP_006721579.2:p.Tyr160=
XM_011523829.2:c.478T= XP_011522131.1:p.Tyr160=
XM_011523830.2:c.478T= XP_011522132.1:p.Tyr160=
XM_024450741.1:c.478T= XP_024306509.1:p.Tyr160=
XR_934021.2:n.537T=
XR_934022.2:n.537T=
XR_934023.2:n.537T=
NM_000018.4:c.478T= MANE Select NP_000009.1:p.Tyr160=
NM_001033859.3:c.412T= NP_001029031.1:p.Tyr138=
NM_001270447.2:c.547T= NP_001257376.1:p.Tyr183=
NM_001270448.2:c.250T= NP_001257377.1:p.Tyr84=