Canonical Allele Identifier: CA2245716685
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7225119C= , CM000679.2:g.7225119C= GRCh38
NC_000017.10:g.7128438C= , CM000679.1:g.7128438C= GRCh37
NC_000017.9:g.7069162C= NCBI36
NG_007975.1:g.10286C=
NG_033038.1:g.14426G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.*22C= MANE Select ENSP00000349297.5:n.*22C=
ENST00000322910.9:c.*1945C= ENSP00000325395.5:n.*1945C=
ENST00000350303.9:c.*22C= ENSP00000344152.5:n.*22C=
ENST00000356839.9:c.*22C= ENSP00000349297.5:n.*22C=
ENST00000542255.6:c.869C=
ENST00000543245.6:c.*22C= ENSP00000438689.2:n.*22C=
ENST00000578033.1:n.415C=
ENST00000578319.5:n.571C=
ENST00000578711.1:n.1615C=
ENST00000578809.5:n.562C=
ENST00000579425.5:n.1106C=
ENST00000583848.5:c.356C= ENSP00000466487.1:n.356C=
ENST00000583850.5:n.761C=
ENST00000583858.5:c.921C=
NM_000018.3:c.*22C= NP_000009.1:n.*22C=
NM_001033859.2:c.*22C= NP_001029031.1:n.*22C=
NM_001270447.1:c.*22C= NP_001257376.1:n.*22C=
NM_001270448.1:c.*22C= NP_001257377.1:n.*22C=
XM_006721516.2:c.*22C= XP_006721579.2:n.*22C=
XM_011523829.1:c.*22C= XP_011522131.1:n.*22C=
XM_011523830.1:c.*22C= XP_011522132.1:n.*22C=
XR_934021.1:n.2093C=
XR_934022.1:n.1999C=
XR_934023.1:n.2020C=
XM_006721516.3:c.*22C= XP_006721579.2:n.*22C=
XM_011523829.2:c.*22C= XP_011522131.1:n.*22C=
XM_011523830.2:c.*22C= XP_011522132.1:n.*22C=
XM_024450741.1:c.*22C= XP_024306509.1:n.*22C=
XR_934021.2:n.2045C=
XR_934022.2:n.1951C=
XR_934023.2:n.1972C=
NM_000018.4:c.*22C= MANE Select NP_000009.1:n.*22C=
NM_001033859.3:c.*22C= NP_001029031.1:n.*22C=
NM_001270447.2:c.*22C= NP_001257376.1:n.*22C=
NM_001270448.2:c.*22C= NP_001257377.1:n.*22C=