Canonical Allele Identifier: CA2635778349

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7219916G>A , CM000679.2:g.7219916G>A GRCh38
NC_000017.10:g.7123235G>A , CM000679.1:g.7123235G>A GRCh37
NC_000017.9:g.7063959G>A NCBI36
NG_007975.1:g.5083G>A
NG_008391.2:g.5135C>T

Transcript Alleles

HGVS Amino-acid Change
NM_000018.3:c.-69G>A (ACADVL) NP_000009.1:n.-69G>A
NM_001033859.2:c.-69G>A (ACADVL) NP_001029031.1:n.-69G>A
NM_001270447.1:c.132-206G>A (ACADVL) NP_001257376.1:n.132-206G>A
NM_001270447.2:c.132-206G>A (ACADVL) NP_001257376.1:n.132-206G>A
NM_001270448.1:c.-372G>A (ACADVL) NP_001257377.1:n.-372G>A
NM_001321074.1:c.-1067C>T (DLG4) NP_001308003.1:n.-1067C>T
NM_001365.3:c.-1067C>T (DLG4) NP_001356.1:n.-1067C>T
NM_001365.4:c.-1067C>T (DLG4) NP_001356.1:n.-1067C>T
NR_135527.1:n.135C>T (DLG4)
ENST00000322910.9:c.-69G>A (ACADVL) ENSP00000325395.5:n.-69G>A
ENST00000350303.9:c.-69G>A (ACADVL) ENSP00000344152.5:n.-69G>A
ENST00000356839.9:c.-69G>A (ACADVL) ENSP00000349297.5:n.-69G>A
ENST00000543245.6:c.132-206G>A (ACADVL) ENSP00000438689.2:n.132-206G>A
ENST00000577191.5:n.9G>A (ACADVL)
ENST00000577857.5:n.22G>A (ACADVL)
ENST00000578269.5:n.39G>A (ACADVL)
ENST00000579286.5:n.39G>A (ACADVL)
ENST00000580263.5:n.22G>A (ACADVL)
ENST00000582056.5:n.22G>A (ACADVL)
ENST00000582356.5:n.57G>A (ACADVL)
ENST00000583312.5:c.-69G>A (ACADVL) ENSP00000467920.1:n.-69G>A
ENST00000584103.5:c.-69G>A (ACADVL) ENSP00000465353.1:n.-69G>A
XM_006721516.2:c.-69G>A (ACADVL) XP_006721579.2:n.-69G>A
XM_011523829.1:c.-69G>A (ACADVL) XP_011522131.1:n.-69G>A
XM_011523830.1:c.-69G>A (ACADVL) XP_011522132.1:n.-69G>A
XR_934021.1:n.39G>A (ACADVL)
XR_934022.1:n.39G>A (ACADVL)
XR_934023.1:n.39G>A (ACADVL)