Canonical Allele Identifier: CA2245711574
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223692T= , CM000679.2:g.7223692T= GRCh38
NC_000017.10:g.7127011T= , CM000679.1:g.7127011T= GRCh37
NC_000017.9:g.7067735T= NCBI36
NG_007975.1:g.8859T=
NG_008391.2:g.1359A=
NG_033038.1:g.15853A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1231T= MANE Select ENSP00000349297.5:p.Phe411=
ENST00000322910.9:c.*1186T= ENSP00000325395.5:n.*1186T=
ENST00000350303.9:c.1165T= ENSP00000344152.5:p.Phe389=
ENST00000356839.9:c.1231T= ENSP00000349297.5:p.Phe411=
ENST00000542255.6:c.89T=
ENST00000543245.6:c.1300T= ENSP00000438689.2:p.Phe434=
ENST00000578579.2:n.402T=
ENST00000578711.1:n.188T=
ENST00000578824.5:n.647T=
ENST00000579425.5:n.255T=
ENST00000579546.1:c.68T=
ENST00000583850.5:n.6T=
ENST00000583858.5:c.260T=
ENST00000585203.6:n.439T=
NM_000018.3:c.1231T= NP_000009.1:p.Phe411=
NM_001033859.2:c.1165T= NP_001029031.1:p.Phe389=
NM_001270447.1:c.1300T= NP_001257376.1:p.Phe434=
NM_001270448.1:c.1003T= NP_001257377.1:p.Phe335=
XM_006721516.2:c.1231T= XP_006721579.2:p.Phe411=
XM_011523829.1:c.1231T= XP_011522131.1:p.Phe411=
XM_011523830.1:c.1231T= XP_011522132.1:p.Phe411=
XR_934021.1:n.1338T=
XR_934022.1:n.1338T=
XR_934023.1:n.1338T=
XM_006721516.3:c.1231T= XP_006721579.2:p.Phe411=
XM_011523829.2:c.1231T= XP_011522131.1:p.Phe411=
XM_011523830.2:c.1231T= XP_011522132.1:p.Phe411=
XM_024450741.1:c.1231T= XP_024306509.1:p.Phe411=
XR_934021.2:n.1290T=
XR_934022.2:n.1290T=
XR_934023.2:n.1290T=
NM_000018.4:c.1231T= MANE Select NP_000009.1:p.Phe411=
NM_001033859.3:c.1165T= NP_001029031.1:p.Phe389=
NM_001270447.2:c.1300T= NP_001257376.1:p.Phe434=
NM_001270448.2:c.1003T= NP_001257377.1:p.Phe335=