Canonical Allele Identifier: CA2245700442
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221666C= , CM000679.2:g.7221666C= GRCh38
NC_000017.10:g.7124985C= , CM000679.1:g.7124985C= GRCh37
NC_000017.9:g.7065709C= NCBI36
NG_007975.1:g.6833C=
NG_008391.2:g.3385G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.606C= MANE Select ENSP00000349297.5:p.Leu202=
ENST00000322910.9:c.*561C= ENSP00000325395.5:n.*561C=
ENST00000350303.9:c.540C= ENSP00000344152.5:p.Leu180=
ENST00000356839.9:c.606C= ENSP00000349297.5:p.Leu202=
ENST00000543245.6:c.675C= ENSP00000438689.2:p.Leu225=
ENST00000577191.5:n.683C=
ENST00000577857.5:n.422C=
ENST00000579286.5:n.787C=
ENST00000579886.2:c.444C= ENSP00000463246.1:p.Leu148=
ENST00000580365.1:n.337C=
ENST00000581378.5:c.324C=
ENST00000581562.5:n.525-286C=
ENST00000583312.5:c.606C= ENSP00000467920.1:p.Leu202=
ENST00000583760.1:n.388C=
NM_000018.3:c.606C= NP_000009.1:p.Leu202=
NM_001033859.2:c.540C= NP_001029031.1:p.Leu180=
NM_001270447.1:c.675C= NP_001257376.1:p.Leu225=
NM_001270448.1:c.378C= NP_001257377.1:p.Leu126=
XM_006721516.2:c.606C= XP_006721579.2:p.Leu202=
XM_011523829.1:c.606C= XP_011522131.1:p.Leu202=
XM_011523830.1:c.606C= XP_011522132.1:p.Leu202=
XR_934021.1:n.713C=
XR_934022.1:n.713C=
XR_934023.1:n.713C=
XM_006721516.3:c.606C= XP_006721579.2:p.Leu202=
XM_011523829.2:c.606C= XP_011522131.1:p.Leu202=
XM_011523830.2:c.606C= XP_011522132.1:p.Leu202=
XM_024450741.1:c.606C= XP_024306509.1:p.Leu202=
XR_934021.2:n.665C=
XR_934022.2:n.665C=
XR_934023.2:n.665C=
NM_000018.4:c.606C= MANE Select NP_000009.1:p.Leu202=
NM_001033859.3:c.540C= NP_001029031.1:p.Leu180=
NM_001270447.2:c.675C= NP_001257376.1:p.Leu225=
NM_001270448.2:c.378C= NP_001257377.1:p.Leu126=