Canonical Allele Identifier: CA2245697379

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7220034T= , CM000679.2:g.7220034T= GRCh38
NC_000017.10:g.7123353T= , CM000679.1:g.7123353T= GRCh37
NC_000017.9:g.7064077T= NCBI36
NG_007975.1:g.5201T=
NG_008391.2:g.5017A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.50T= (ACADVL) MANE Select ENSP00000349297.5:p.Leu17=
ENST00000322910.9:c.50T= (ACADVL) ENSP00000325395.5:p.Leu17=
ENST00000350303.9:c.50T= (ACADVL) ENSP00000344152.5:p.Leu17=
ENST00000356839.9:c.50T= (ACADVL) ENSP00000349297.5:p.Leu17=
ENST00000543245.6:c.132-88T= (ACADVL) ENSP00000438689.2:n.132-88T=
ENST00000577191.5:n.127T= (ACADVL)
ENST00000577857.5:n.140T= (ACADVL)
ENST00000578269.5:n.157T= (ACADVL)
ENST00000578421.1:n.109T= (ACADVL)
ENST00000579286.5:n.157T= (ACADVL)
ENST00000579886.2:c.50T= (ACADVL) ENSP00000463246.1:p.Leu17=
ENST00000580263.5:n.140T= (ACADVL)
ENST00000581562.5:n.97T= (ACADVL)
ENST00000582056.5:n.140T= (ACADVL)
ENST00000582356.5:n.175T= (ACADVL)
ENST00000583312.5:c.50T= (ACADVL) ENSP00000467920.1:p.Leu17=
ENST00000584103.5:c.50T= (ACADVL) ENSP00000465353.1:p.Leu17=
NM_000018.3:c.50T= (ACADVL) NP_000009.1:p.Leu17=
NM_001033859.2:c.50T= (ACADVL) NP_001029031.1:p.Leu17=
NM_001270447.1:c.132-88T= (ACADVL) NP_001257376.1:n.132-88T=
NM_001270448.1:c.-254T= (ACADVL) NP_001257377.1:n.-254T=
NM_001365.3:c.-1185A= (DLG4) NP_001356.1:n.-1185A=
XM_006721516.2:c.50T= (ACADVL) XP_006721579.2:p.Leu17=
XM_011523829.1:c.50T= (ACADVL) XP_011522131.1:p.Leu17=
XM_011523830.1:c.50T= (ACADVL) XP_011522132.1:p.Leu17=
XR_934021.1:n.157T= (ACADVL)
XR_934022.1:n.157T= (ACADVL)
XR_934023.1:n.157T= (ACADVL)
NM_001321074.1:c.-1185A= (DLG4) NP_001308003.1:n.-1185A=
NM_001365.4:c.-1185A= (DLG4) NP_001356.1:n.-1185A=
NR_135527.1:n.17A= (DLG4)
XM_006721516.3:c.50T= (ACADVL) XP_006721579.2:p.Leu17=
XM_011523829.2:c.50T= (ACADVL) XP_011522131.1:p.Leu17=
XM_011523830.2:c.50T= (ACADVL) XP_011522132.1:p.Leu17=
XM_024450741.1:c.50T= (ACADVL) XP_024306509.1:p.Leu17=
XR_934021.2:n.109T= (ACADVL)
XR_934022.2:n.109T= (ACADVL)
XR_934023.2:n.109T= (ACADVL)
NM_000018.4:c.50T= (ACADVL) MANE Select NP_000009.1:p.Leu17=
NM_001033859.3:c.50T= (ACADVL) NP_001029031.1:p.Leu17=
NM_001270447.2:c.132-88T= (ACADVL) NP_001257376.1:n.132-88T=
NM_001270448.2:c.-254T= (ACADVL) NP_001257377.1:n.-254T=