Canonical Allele Identifier: CA624860661
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs748338462
gnomAD v2: 17-7125231-C-T
gnomAD v4: 17-7221912-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221912C>T , CM000679.2:g.7221912C>T GRCh38
NC_000017.10:g.7125231C>T , CM000679.1:g.7125231C>T GRCh37
NC_000017.9:g.7065955C>T NCBI36
NG_007975.1:g.7079C>T
NG_008391.2:g.3139G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.623-40C>T MANE Select ENSP00000349297.5:n.623-40C>T
ENST00000322910.9:c.*578-40C>T ENSP00000325395.5:n.*578-40C>T
ENST00000350303.9:c.557-40C>T ENSP00000344152.5:n.557-40C>T
ENST00000356839.9:c.623-40C>T ENSP00000349297.5:n.623-40C>T
ENST00000543245.6:c.692-40C>T ENSP00000438689.2:n.692-40C>T
ENST00000577191.5:n.700-40C>T
ENST00000577857.5:n.439-40C>T
ENST00000579286.5:n.804-40C>T
ENST00000579886.2:c.461-40C>T ENSP00000463246.1:n.461-40C>T
ENST00000580365.1:n.354-40C>T
ENST00000581378.5:c.341-40C>T
ENST00000581562.5:n.525-40C>T
ENST00000583312.5:c.623-25C>T ENSP00000467920.1:n.623-25C>T
ENST00000583760.1:n.405-40C>T
NM_000018.3:c.623-40C>T NP_000009.1:n.623-40C>T
NM_001033859.2:c.557-40C>T NP_001029031.1:n.557-40C>T
NM_001270447.1:c.692-40C>T NP_001257376.1:n.692-40C>T
NM_001270448.1:c.395-40C>T NP_001257377.1:n.395-40C>T
XM_006721516.2:c.623-40C>T XP_006721579.2:n.623-40C>T
XM_011523829.1:c.623-40C>T XP_011522131.1:n.623-40C>T
XM_011523830.1:c.623-40C>T XP_011522132.1:n.623-40C>T
XR_934021.1:n.730-40C>T
XR_934022.1:n.730-40C>T
XR_934023.1:n.730-40C>T
XM_006721516.3:c.623-40C>T XP_006721579.2:n.623-40C>T
XM_011523829.2:c.623-40C>T XP_011522131.1:n.623-40C>T
XM_011523830.2:c.623-40C>T XP_011522132.1:n.623-40C>T
XM_024450741.1:c.623-40C>T XP_024306509.1:n.623-40C>T
XR_934021.2:n.682-40C>T
XR_934022.2:n.682-40C>T
XR_934023.2:n.682-40C>T
NM_000018.4:c.623-40C>T MANE Select NP_000009.1:n.623-40C>T
NM_001033859.3:c.557-40C>T NP_001029031.1:n.557-40C>T
NM_001270447.2:c.692-40C>T NP_001257376.1:n.692-40C>T
NM_001270448.2:c.395-40C>T NP_001257377.1:n.395-40C>T