Canonical Allele Identifier: CA397725389
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs371654348
gnomAD v3: 17-7224354-C-A
gnomAD v4: 17-7224354-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224354C>A , CM000679.2:g.7224354C>A GRCh38
NC_000017.10:g.7127673C>A , CM000679.1:g.7127673C>A GRCh37
NC_000017.9:g.7068397C>A NCBI36
NG_007975.1:g.9521C>A
NG_008391.2:g.697G>T
NG_033038.1:g.15191G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1566C>A MANE Select ENSP00000349297.5:p.Ser522Arg
ENST00000322910.9:c.*1521C>A ENSP00000325395.5:n.*1521C>A
ENST00000350303.9:c.1500C>A ENSP00000344152.5:p.Ser500Arg
ENST00000356839.9:c.1566C>A ENSP00000349297.5:p.Ser522Arg
ENST00000542255.6:c.424C>A
ENST00000543245.6:c.1635C>A ENSP00000438689.2:p.Ser545Arg
ENST00000578319.5:n.61C>A
ENST00000578711.1:n.850C>A
ENST00000578809.5:n.138C>A
ENST00000579391.1:n.174C>A
ENST00000579425.5:n.682C>A
ENST00000579546.1:c.305C>A
ENST00000579894.5:n.353C>A
ENST00000582450.1:n.74C>A
ENST00000583074.5:n.187C>A
ENST00000583850.5:n.341C>A
ENST00000583858.5:c.497C>A
ENST00000585203.6:n.757C>A
NM_000018.3:c.1566C>A NP_000009.1:p.Ser522Arg
NM_001033859.2:c.1500C>A NP_001029031.1:p.Ser500Arg
NM_001270447.1:c.1635C>A NP_001257376.1:p.Ser545Arg
NM_001270448.1:c.1338C>A NP_001257377.1:p.Ser446Arg
XM_006721516.2:c.1566C>A XP_006721579.2:p.Ser522Arg
XM_011523829.1:c.1468C>A XP_011522131.1:p.Arg490=
XM_011523830.1:c.1468C>A XP_011522132.1:p.Arg490=
XR_934021.1:n.1673C>A
XR_934022.1:n.1575C>A
XR_934023.1:n.1575C>A
XM_006721516.3:c.1566C>A XP_006721579.2:p.Ser522Arg
XM_011523829.2:c.1468C>A XP_011522131.1:p.Arg490=
XM_011523830.2:c.1468C>A XP_011522132.1:p.Arg490=
XM_024450741.1:c.1468C>A XP_024306509.1:p.Arg490=
XR_934021.2:n.1625C>A
XR_934022.2:n.1527C>A
XR_934023.2:n.1527C>A
NM_000018.4:c.1566C>A MANE Select NP_000009.1:p.Ser522Arg
NM_001033859.3:c.1500C>A NP_001029031.1:p.Ser500Arg
NM_001270447.2:c.1635C>A NP_001257376.1:p.Ser545Arg
NM_001270448.2:c.1338C>A NP_001257377.1:p.Ser446Arg