Canonical Allele Identifier: CA2245700388
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221653A= , CM000679.2:g.7221653A= GRCh38
NC_000017.10:g.7124972A= , CM000679.1:g.7124972A= GRCh37
NC_000017.9:g.7065696A= NCBI36
NG_007975.1:g.6820A=
NG_008391.2:g.3398T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.593A= MANE Select ENSP00000349297.5:p.Lys198=
ENST00000322910.9:c.*548A= ENSP00000325395.5:n.*548A=
ENST00000350303.9:c.527A= ENSP00000344152.5:p.Lys176=
ENST00000356839.9:c.593A= ENSP00000349297.5:p.Lys198=
ENST00000543245.6:c.662A= ENSP00000438689.2:p.Lys221=
ENST00000577191.5:n.670A=
ENST00000577433.5:n.801A=
ENST00000577857.5:n.409A=
ENST00000579286.5:n.774A=
ENST00000579886.2:c.431A= ENSP00000463246.1:p.Lys144=
ENST00000580365.1:n.324A=
ENST00000581378.5:c.311A=
ENST00000581562.5:n.525-299A=
ENST00000583312.5:c.593A= ENSP00000467920.1:p.Lys198=
ENST00000583760.1:n.375A=
NM_000018.3:c.593A= NP_000009.1:p.Lys198=
NM_001033859.2:c.527A= NP_001029031.1:p.Lys176=
NM_001270447.1:c.662A= NP_001257376.1:p.Lys221=
NM_001270448.1:c.365A= NP_001257377.1:p.Lys122=
XM_006721516.2:c.593A= XP_006721579.2:p.Lys198=
XM_011523829.1:c.593A= XP_011522131.1:p.Lys198=
XM_011523830.1:c.593A= XP_011522132.1:p.Lys198=
XR_934021.1:n.700A=
XR_934022.1:n.700A=
XR_934023.1:n.700A=
XM_006721516.3:c.593A= XP_006721579.2:p.Lys198=
XM_011523829.2:c.593A= XP_011522131.1:p.Lys198=
XM_011523830.2:c.593A= XP_011522132.1:p.Lys198=
XM_024450741.1:c.593A= XP_024306509.1:p.Lys198=
XR_934021.2:n.652A=
XR_934022.2:n.652A=
XR_934023.2:n.652A=
NM_000018.4:c.593A= MANE Select NP_000009.1:p.Lys198=
NM_001033859.3:c.527A= NP_001029031.1:p.Lys176=
NM_001270447.2:c.662A= NP_001257376.1:p.Lys221=
NM_001270448.2:c.365A= NP_001257377.1:p.Lys122=