Canonical Allele Identifier: CA397725385
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1564A>T MANE Select ENSP00000349297.5:p.Ser522Cys
ENST00000322910.9:c.*1519A>T ENSP00000325395.5:n.*1519A>T
ENST00000350303.9:c.1498A>T ENSP00000344152.5:p.Ser500Cys
ENST00000356839.9:c.1564A>T ENSP00000349297.5:p.Ser522Cys
ENST00000542255.6:c.422A>T
ENST00000543245.6:c.1633A>T ENSP00000438689.2:p.Ser545Cys
ENST00000578319.5:n.59A>T
ENST00000578711.1:n.848A>T
ENST00000578809.5:n.136A>T
ENST00000579391.1:n.172A>T
ENST00000579425.5:n.680A>T
ENST00000579546.1:c.303A>T
ENST00000579894.5:n.351A>T
ENST00000582450.1:n.72A>T
ENST00000583074.5:n.185A>T
ENST00000583850.5:n.339A>T
ENST00000583858.5:c.495A>T
ENST00000585203.6:n.755A>T
NM_000018.3:c.1564A>T NP_000009.1:p.Ser522Cys
NM_001033859.2:c.1498A>T NP_001029031.1:p.Ser500Cys
NM_001270447.1:c.1633A>T NP_001257376.1:p.Ser545Cys
NM_001270448.1:c.1336A>T NP_001257377.1:p.Ser446Cys
XM_006721516.2:c.1564A>T XP_006721579.2:p.Ser522Cys
XM_011523829.1:c.1466A>T XP_011522131.1:p.Gln489Leu
XM_011523830.1:c.1466A>T XP_011522132.1:p.Gln489Leu
XR_934021.1:n.1671A>T
XR_934022.1:n.1573A>T
XR_934023.1:n.1573A>T
XM_006721516.3:c.1564A>T XP_006721579.2:p.Ser522Cys
XM_011523829.2:c.1466A>T XP_011522131.1:p.Gln489Leu
XM_011523830.2:c.1466A>T XP_011522132.1:p.Gln489Leu
XM_024450741.1:c.1466A>T XP_024306509.1:p.Gln489Leu
XR_934021.2:n.1623A>T
XR_934022.2:n.1525A>T
XR_934023.2:n.1525A>T
NM_000018.4:c.1564A>T MANE Select NP_000009.1:p.Ser522Cys
NM_001033859.3:c.1498A>T NP_001029031.1:p.Ser500Cys
NM_001270447.2:c.1633A>T NP_001257376.1:p.Ser545Cys
NM_001270448.2:c.1336A>T NP_001257377.1:p.Ser446Cys