Canonical Allele Identifier: CA397723061
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221569A>T , CM000679.2:g.7221569A>T GRCh38
NC_000017.10:g.7124888A>T , CM000679.1:g.7124888A>T GRCh37
NC_000017.9:g.7065612A>T NCBI36
NG_007975.1:g.6736A>T
NG_008391.2:g.3482T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.509A>T MANE Select ENSP00000349297.5:p.His170Leu
ENST00000322910.9:c.*464A>T ENSP00000325395.5:n.*464A>T
ENST00000350303.9:c.443A>T ENSP00000344152.5:p.His148Leu
ENST00000356839.9:c.509A>T ENSP00000349297.5:p.His170Leu
ENST00000543245.6:c.578A>T ENSP00000438689.2:p.His193Leu
ENST00000577191.5:n.586A>T
ENST00000577433.5:n.717A>T
ENST00000577857.5:n.325A>T
ENST00000579286.5:n.690A>T
ENST00000579886.2:c.347A>T ENSP00000463246.1:p.His116Leu
ENST00000580365.1:n.240A>T
ENST00000581378.5:c.227A>T
ENST00000581562.5:n.525-383A>T
ENST00000582166.1:n.490A>T
ENST00000583312.5:c.509A>T ENSP00000467920.1:p.His170Leu
ENST00000583760.1:n.291A>T
NM_000018.3:c.509A>T NP_000009.1:p.His170Leu
NM_001033859.2:c.443A>T NP_001029031.1:p.His148Leu
NM_001270447.1:c.578A>T NP_001257376.1:p.His193Leu
NM_001270448.1:c.281A>T NP_001257377.1:p.His94Leu
XM_006721516.2:c.509A>T XP_006721579.2:p.His170Leu
XM_011523829.1:c.509A>T XP_011522131.1:p.His170Leu
XM_011523830.1:c.509A>T XP_011522132.1:p.His170Leu
XR_934021.1:n.616A>T
XR_934022.1:n.616A>T
XR_934023.1:n.616A>T
XM_006721516.3:c.509A>T XP_006721579.2:p.His170Leu
XM_011523829.2:c.509A>T XP_011522131.1:p.His170Leu
XM_011523830.2:c.509A>T XP_011522132.1:p.His170Leu
XM_024450741.1:c.509A>T XP_024306509.1:p.His170Leu
XR_934021.2:n.568A>T
XR_934022.2:n.568A>T
XR_934023.2:n.568A>T
NM_000018.4:c.509A>T MANE Select NP_000009.1:p.His170Leu
NM_001033859.3:c.443A>T NP_001029031.1:p.His148Leu
NM_001270447.2:c.578A>T NP_001257376.1:p.His193Leu
NM_001270448.2:c.281A>T NP_001257377.1:p.His94Leu