Canonical Allele Identifier: CA2245713770
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224326C= , CM000679.2:g.7224326C= GRCh38
NC_000017.10:g.7127645C= , CM000679.1:g.7127645C= GRCh37
NC_000017.9:g.7068369C= NCBI36
NG_007975.1:g.9493C=
NG_008391.2:g.725G=
NG_033038.1:g.15219G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1538C= MANE Select ENSP00000349297.5:p.Ala513=
ENST00000322910.9:c.*1493C= ENSP00000325395.5:n.*1493C=
ENST00000350303.9:c.1472C= ENSP00000344152.5:p.Ala491=
ENST00000356839.9:c.1538C= ENSP00000349297.5:p.Ala513=
ENST00000542255.6:c.396C=
ENST00000543245.6:c.1607C= ENSP00000438689.2:p.Ala536=
ENST00000578319.5:n.33C=
ENST00000578711.1:n.822C=
ENST00000578809.5:n.110C=
ENST00000579391.1:n.146C=
ENST00000579425.5:n.654C=
ENST00000579546.1:c.277C=
ENST00000579894.5:n.325C=
ENST00000582450.1:n.46C=
ENST00000583074.5:n.159C=
ENST00000583850.5:n.313C=
ENST00000583858.5:c.469C=
ENST00000585203.6:n.729C=
NM_000018.3:c.1538C= NP_000009.1:p.Ala513=
NM_001033859.2:c.1472C= NP_001029031.1:p.Ala491=
NM_001270447.1:c.1607C= NP_001257376.1:p.Ala536=
NM_001270448.1:c.1310C= NP_001257377.1:p.Ala437=
XM_006721516.2:c.1538C= XP_006721579.2:p.Ala513=
XM_011523829.1:c.1440C= XP_011522131.1:p.Gly480=
XM_011523830.1:c.1440C= XP_011522132.1:p.Gly480=
XR_934021.1:n.1645C=
XR_934022.1:n.1547C=
XR_934023.1:n.1547C=
XM_006721516.3:c.1538C= XP_006721579.2:p.Ala513=
XM_011523829.2:c.1440C= XP_011522131.1:p.Gly480=
XM_011523830.2:c.1440C= XP_011522132.1:p.Gly480=
XM_024450741.1:c.1440C= XP_024306509.1:p.Gly480=
XR_934021.2:n.1597C=
XR_934022.2:n.1499C=
XR_934023.2:n.1499C=
NM_000018.4:c.1538C= MANE Select NP_000009.1:p.Ala513=
NM_001033859.3:c.1472C= NP_001029031.1:p.Ala491=
NM_001270447.2:c.1607C= NP_001257376.1:p.Ala536=
NM_001270448.2:c.1310C= NP_001257377.1:p.Ala437=