Canonical Allele Identifier: CA2245713929
Gene: ACADVL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224374T= , CM000679.2:g.7224374T= GRCh38
NC_000017.10:g.7127693T= , CM000679.1:g.7127693T= GRCh37
NC_000017.9:g.7068417T= NCBI36
NG_007975.1:g.9541T=
NG_008391.2:g.677A=
NG_033038.1:g.15171A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1586T= MANE Select ENSP00000349297.5:p.Leu529=
ENST00000322910.9:c.*1541T= ENSP00000325395.5:n.*1541T=
ENST00000350303.9:c.1520T= ENSP00000344152.5:p.Leu507=
ENST00000356839.9:c.1586T= ENSP00000349297.5:p.Leu529=
ENST00000542255.6:c.444T=
ENST00000543245.6:c.1655T= ENSP00000438689.2:p.Leu552=
ENST00000578319.5:n.81T=
ENST00000578711.1:n.870T=
ENST00000578809.5:n.158T=
ENST00000579391.1:n.194T=
ENST00000579425.5:n.702T=
ENST00000579546.1:c.325T=
ENST00000579894.5:n.373T=
ENST00000582450.1:n.94T=
ENST00000583074.5:n.207T=
ENST00000583850.5:n.361T=
ENST00000583858.5:c.517T=
ENST00000585203.6:n.777T=
NM_000018.3:c.1586T= NP_000009.1:p.Leu529=
NM_001033859.2:c.1520T= NP_001029031.1:p.Leu507=
NM_001270447.1:c.1655T= NP_001257376.1:p.Leu552=
NM_001270448.1:c.1358T= NP_001257377.1:p.Leu453=
XM_006721516.2:c.1586T= XP_006721579.2:p.Leu529=
XM_011523829.1:c.1488T= XP_011522131.1:p.Val496=
XM_011523830.1:c.1488T= XP_011522132.1:p.Val496=
XR_934021.1:n.1693T=
XR_934022.1:n.1595T=
XR_934023.1:n.1595T=
XM_006721516.3:c.1586T= XP_006721579.2:p.Leu529=
XM_011523829.2:c.1488T= XP_011522131.1:p.Val496=
XM_011523830.2:c.1488T= XP_011522132.1:p.Val496=
XM_024450741.1:c.1488T= XP_024306509.1:p.Val496=
XR_934021.2:n.1645T=
XR_934022.2:n.1547T=
XR_934023.2:n.1547T=
NM_000018.4:c.1586T= MANE Select NP_000009.1:p.Leu529=
NM_001033859.3:c.1520T= NP_001029031.1:p.Leu507=
NM_001270447.2:c.1655T= NP_001257376.1:p.Leu552=
NM_001270448.2:c.1358T= NP_001257377.1:p.Leu453=
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