Canonical Allele Identifier: CA397725355
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224337A>T , CM000679.2:g.7224337A>T GRCh38
NC_000017.10:g.7127656A>T , CM000679.1:g.7127656A>T GRCh37
NC_000017.9:g.7068380A>T NCBI36
NG_007975.1:g.9504A>T
NG_008391.2:g.714T>A
NG_033038.1:g.15208T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1549A>T MANE Select ENSP00000349297.5:p.Ser517Cys
ENST00000322910.9:c.*1504A>T ENSP00000325395.5:n.*1504A>T
ENST00000350303.9:c.1483A>T ENSP00000344152.5:p.Ser495Cys
ENST00000356839.9:c.1549A>T ENSP00000349297.5:p.Ser517Cys
ENST00000542255.6:c.407A>T
ENST00000543245.6:c.1618A>T ENSP00000438689.2:p.Ser540Cys
ENST00000578319.5:n.44A>T
ENST00000578711.1:n.833A>T
ENST00000578809.5:n.121A>T
ENST00000579391.1:n.157A>T
ENST00000579425.5:n.665A>T
ENST00000579546.1:c.288A>T
ENST00000579894.5:n.336A>T
ENST00000582450.1:n.57A>T
ENST00000583074.5:n.170A>T
ENST00000583850.5:n.324A>T
ENST00000583858.5:c.480A>T
ENST00000585203.6:n.740A>T
NM_000018.3:c.1549A>T NP_000009.1:p.Ser517Cys
NM_001033859.2:c.1483A>T NP_001029031.1:p.Ser495Cys
NM_001270447.1:c.1618A>T NP_001257376.1:p.Ser540Cys
NM_001270448.1:c.1321A>T NP_001257377.1:p.Ser441Cys
XM_006721516.2:c.1549A>T XP_006721579.2:p.Ser517Cys
XM_011523829.1:c.1451A>T XP_011522131.1:p.Gln484Leu
XM_011523830.1:c.1451A>T XP_011522132.1:p.Gln484Leu
XR_934021.1:n.1656A>T
XR_934022.1:n.1558A>T
XR_934023.1:n.1558A>T
XM_006721516.3:c.1549A>T XP_006721579.2:p.Ser517Cys
XM_011523829.2:c.1451A>T XP_011522131.1:p.Gln484Leu
XM_011523830.2:c.1451A>T XP_011522132.1:p.Gln484Leu
XM_024450741.1:c.1451A>T XP_024306509.1:p.Gln484Leu
XR_934021.2:n.1608A>T
XR_934022.2:n.1510A>T
XR_934023.2:n.1510A>T
NM_000018.4:c.1549A>T MANE Select NP_000009.1:p.Ser517Cys
NM_001033859.3:c.1483A>T NP_001029031.1:p.Ser495Cys
NM_001270447.2:c.1618A>T NP_001257376.1:p.Ser540Cys
NM_001270448.2:c.1321A>T NP_001257377.1:p.Ser441Cys