Canonical Allele Identifier: CA397722714
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7220931A>C , CM000679.2:g.7220931A>C GRCh38
NC_000017.10:g.7124250A>C , CM000679.1:g.7124250A>C GRCh37
NC_000017.9:g.7064974A>C NCBI36
NG_007975.1:g.6098A>C
NG_008391.2:g.4120T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.350A>C MANE Select ENSP00000349297.5:p.Asn117Thr
ENST00000322910.9:c.*305A>C ENSP00000325395.5:n.*305A>C
ENST00000350303.9:c.284A>C ENSP00000344152.5:p.Asn95Thr
ENST00000356839.9:c.350A>C ENSP00000349297.5:p.Asn117Thr
ENST00000543245.6:c.419A>C ENSP00000438689.2:p.Asn140Thr
ENST00000577191.5:n.427A>C
ENST00000577433.5:n.558A>C
ENST00000577857.5:n.293+101A>C
ENST00000579286.5:n.531A>C
ENST00000579886.2:c.202-14A>C ENSP00000463246.1:n.202-14A>C
ENST00000580365.1:n.81A>C
ENST00000581378.5:c.49A>C
ENST00000581562.5:n.397A>C
ENST00000582056.5:n.533A>C
ENST00000582166.1:n.331A>C
ENST00000583312.5:c.350A>C ENSP00000467920.1:p.Asn117Thr
ENST00000584103.5:c.383A>C ENSP00000465353.1:p.Asn128Thr
NM_000018.3:c.350A>C NP_000009.1:p.Asn117Thr
NM_001033859.2:c.284A>C NP_001029031.1:p.Asn95Thr
NM_001270447.1:c.419A>C NP_001257376.1:p.Asn140Thr
NM_001270448.1:c.122A>C NP_001257377.1:p.Asn41Thr
XM_006721516.2:c.350A>C XP_006721579.2:p.Asn117Thr
XM_011523829.1:c.350A>C XP_011522131.1:p.Asn117Thr
XM_011523830.1:c.350A>C XP_011522132.1:p.Asn117Thr
XR_934021.1:n.457A>C
XR_934022.1:n.457A>C
XR_934023.1:n.457A>C
XM_006721516.3:c.350A>C XP_006721579.2:p.Asn117Thr
XM_011523829.2:c.350A>C XP_011522131.1:p.Asn117Thr
XM_011523830.2:c.350A>C XP_011522132.1:p.Asn117Thr
XM_024450741.1:c.350A>C XP_024306509.1:p.Asn117Thr
XR_934021.2:n.409A>C
XR_934022.2:n.409A>C
XR_934023.2:n.409A>C
NM_000018.4:c.350A>C MANE Select NP_000009.1:p.Asn117Thr
NM_001033859.3:c.284A>C NP_001029031.1:p.Asn95Thr
NM_001270447.2:c.419A>C NP_001257376.1:p.Asn140Thr
NM_001270448.2:c.122A>C NP_001257377.1:p.Asn41Thr