Canonical Allele Identifier: CA397725445
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224382A>T , CM000679.2:g.7224382A>T GRCh38
NC_000017.10:g.7127701A>T , CM000679.1:g.7127701A>T GRCh37
NC_000017.9:g.7068425A>T NCBI36
NG_007975.1:g.9549A>T
NG_008391.2:g.669T>A
NG_033038.1:g.15163T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1594A>T MANE Select ENSP00000349297.5:p.Ser532Cys
ENST00000322910.9:c.*1549A>T ENSP00000325395.5:n.*1549A>T
ENST00000350303.9:c.1528A>T ENSP00000344152.5:p.Ser510Cys
ENST00000356839.9:c.1594A>T ENSP00000349297.5:p.Ser532Cys
ENST00000542255.6:c.452A>T
ENST00000543245.6:c.1663A>T ENSP00000438689.2:p.Ser555Cys
ENST00000578319.5:n.89A>T
ENST00000578711.1:n.878A>T
ENST00000578809.5:n.166A>T
ENST00000579391.1:n.202A>T
ENST00000579425.5:n.710A>T
ENST00000579546.1:c.333A>T
ENST00000579894.5:n.381A>T
ENST00000582450.1:n.102A>T
ENST00000583074.5:n.215A>T
ENST00000583850.5:n.369A>T
ENST00000583858.5:c.525A>T
ENST00000585203.6:n.785A>T
NM_000018.3:c.1594A>T NP_000009.1:p.Ser532Cys
NM_001033859.2:c.1528A>T NP_001029031.1:p.Ser510Cys
NM_001270447.1:c.1663A>T NP_001257376.1:p.Ser555Cys
NM_001270448.1:c.1366A>T NP_001257377.1:p.Ser456Cys
XM_006721516.2:c.1594A>T XP_006721579.2:p.Ser532Cys
XM_011523829.1:c.1496A>T XP_011522131.1:p.Glu499Val
XM_011523830.1:c.1496A>T XP_011522132.1:p.Glu499Val
XR_934021.1:n.1701A>T
XR_934022.1:n.1603A>T
XR_934023.1:n.1603A>T
XM_006721516.3:c.1594A>T XP_006721579.2:p.Ser532Cys
XM_011523829.2:c.1496A>T XP_011522131.1:p.Glu499Val
XM_011523830.2:c.1496A>T XP_011522132.1:p.Glu499Val
XM_024450741.1:c.1496A>T XP_024306509.1:p.Glu499Val
XR_934021.2:n.1653A>T
XR_934022.2:n.1555A>T
XR_934023.2:n.1555A>T
NM_000018.4:c.1594A>T MANE Select NP_000009.1:p.Ser532Cys
NM_001033859.3:c.1528A>T NP_001029031.1:p.Ser510Cys
NM_001270447.2:c.1663A>T NP_001257376.1:p.Ser555Cys
NM_001270448.2:c.1366A>T NP_001257377.1:p.Ser456Cys