Canonical Allele Identifier: CA397725383
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224352A>C , CM000679.2:g.7224352A>C GRCh38
NC_000017.10:g.7127671A>C , CM000679.1:g.7127671A>C GRCh37
NC_000017.9:g.7068395A>C NCBI36
NG_007975.1:g.9519A>C
NG_008391.2:g.699T>G
NG_033038.1:g.15193T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1564A>C MANE Select ENSP00000349297.5:p.Ser522Arg
ENST00000322910.9:c.*1519A>C ENSP00000325395.5:n.*1519A>C
ENST00000350303.9:c.1498A>C ENSP00000344152.5:p.Ser500Arg
ENST00000356839.9:c.1564A>C ENSP00000349297.5:p.Ser522Arg
ENST00000542255.6:c.422A>C
ENST00000543245.6:c.1633A>C ENSP00000438689.2:p.Ser545Arg
ENST00000578319.5:n.59A>C
ENST00000578711.1:n.848A>C
ENST00000578809.5:n.136A>C
ENST00000579391.1:n.172A>C
ENST00000579425.5:n.680A>C
ENST00000579546.1:c.303A>C
ENST00000579894.5:n.351A>C
ENST00000582450.1:n.72A>C
ENST00000583074.5:n.185A>C
ENST00000583850.5:n.339A>C
ENST00000583858.5:c.495A>C
ENST00000585203.6:n.755A>C
NM_000018.3:c.1564A>C NP_000009.1:p.Ser522Arg
NM_001033859.2:c.1498A>C NP_001029031.1:p.Ser500Arg
NM_001270447.1:c.1633A>C NP_001257376.1:p.Ser545Arg
NM_001270448.1:c.1336A>C NP_001257377.1:p.Ser446Arg
XM_006721516.2:c.1564A>C XP_006721579.2:p.Ser522Arg
XM_011523829.1:c.1466A>C XP_011522131.1:p.Gln489Pro
XM_011523830.1:c.1466A>C XP_011522132.1:p.Gln489Pro
XR_934021.1:n.1671A>C
XR_934022.1:n.1573A>C
XR_934023.1:n.1573A>C
XM_006721516.3:c.1564A>C XP_006721579.2:p.Ser522Arg
XM_011523829.2:c.1466A>C XP_011522131.1:p.Gln489Pro
XM_011523830.2:c.1466A>C XP_011522132.1:p.Gln489Pro
XM_024450741.1:c.1466A>C XP_024306509.1:p.Gln489Pro
XR_934021.2:n.1623A>C
XR_934022.2:n.1525A>C
XR_934023.2:n.1525A>C
NM_000018.4:c.1564A>C MANE Select NP_000009.1:p.Ser522Arg
NM_001033859.3:c.1498A>C NP_001029031.1:p.Ser500Arg
NM_001270447.2:c.1633A>C NP_001257376.1:p.Ser545Arg
NM_001270448.2:c.1336A>C NP_001257377.1:p.Ser446Arg