Canonical Allele Identifier: CA397723060
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.509A>C MANE Select ENSP00000349297.5:p.His170Pro
ENST00000322910.9:c.*464A>C ENSP00000325395.5:n.*464A>C
ENST00000350303.9:c.443A>C ENSP00000344152.5:p.His148Pro
ENST00000356839.9:c.509A>C ENSP00000349297.5:p.His170Pro
ENST00000543245.6:c.578A>C ENSP00000438689.2:p.His193Pro
ENST00000577191.5:n.586A>C
ENST00000577433.5:n.717A>C
ENST00000577857.5:n.325A>C
ENST00000579286.5:n.690A>C
ENST00000579886.2:c.347A>C ENSP00000463246.1:p.His116Pro
ENST00000580365.1:n.240A>C
ENST00000581378.5:c.227A>C
ENST00000581562.5:n.525-383A>C
ENST00000582166.1:n.490A>C
ENST00000583312.5:c.509A>C ENSP00000467920.1:p.His170Pro
ENST00000583760.1:n.291A>C
NM_000018.3:c.509A>C NP_000009.1:p.His170Pro
NM_001033859.2:c.443A>C NP_001029031.1:p.His148Pro
NM_001270447.1:c.578A>C NP_001257376.1:p.His193Pro
NM_001270448.1:c.281A>C NP_001257377.1:p.His94Pro
XM_006721516.2:c.509A>C XP_006721579.2:p.His170Pro
XM_011523829.1:c.509A>C XP_011522131.1:p.His170Pro
XM_011523830.1:c.509A>C XP_011522132.1:p.His170Pro
XR_934021.1:n.616A>C
XR_934022.1:n.616A>C
XR_934023.1:n.616A>C
XM_006721516.3:c.509A>C XP_006721579.2:p.His170Pro
XM_011523829.2:c.509A>C XP_011522131.1:p.His170Pro
XM_011523830.2:c.509A>C XP_011522132.1:p.His170Pro
XM_024450741.1:c.509A>C XP_024306509.1:p.His170Pro
XR_934021.2:n.568A>C
XR_934022.2:n.568A>C
XR_934023.2:n.568A>C
NM_000018.4:c.509A>C MANE Select NP_000009.1:p.His170Pro
NM_001033859.3:c.443A>C NP_001029031.1:p.His148Pro
NM_001270447.2:c.578A>C NP_001257376.1:p.His193Pro
NM_001270448.2:c.281A>C NP_001257377.1:p.His94Pro