Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7219926G>T , CM000679.2:g.7219926G>T	GRCh38
NC_000017.10:g.7123245G>T , CM000679.1:g.7123245G>T	GRCh37
NC_000017.9:g.7063969G>T	NCBI36
NG_007975.1:g.5093G>T
NG_008391.2:g.5125C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000322910.9:c.-59G>T (ACADVL)	ENSP00000325395.5:n.-59G>T
ENST00000350303.9:c.-59G>T (ACADVL)	ENSP00000344152.5:n.-59G>T
ENST00000356839.9:c.-59G>T (ACADVL)	ENSP00000349297.5:n.-59G>T
ENST00000543245.6:c.132-196G>T (ACADVL)	ENSP00000438689.2:n.132-196G>T
ENST00000577191.5:n.19G>T (ACADVL)
ENST00000577857.5:n.32G>T (ACADVL)
ENST00000578269.5:n.49G>T (ACADVL)
ENST00000578421.1:n.1G>T (ACADVL)
ENST00000579286.5:n.49G>T (ACADVL)
ENST00000580263.5:n.32G>T (ACADVL)
ENST00000582056.5:n.32G>T (ACADVL)
ENST00000582356.5:n.67G>T (ACADVL)
ENST00000583312.5:c.-59G>T (ACADVL)	ENSP00000467920.1:n.-59G>T
ENST00000584103.5:c.-59G>T (ACADVL)	ENSP00000465353.1:n.-59G>T
NM_000018.3:c.-59G>T (ACADVL)	NP_000009.1:n.-59G>T
NM_001033859.2:c.-59G>T (ACADVL)	NP_001029031.1:n.-59G>T
NM_001270447.1:c.132-196G>T (ACADVL)	NP_001257376.1:n.132-196G>T
NM_001270448.1:c.-362G>T (ACADVL)	NP_001257377.1:n.-362G>T
NM_001365.3:c.-1077C>A (DLG4)	NP_001356.1:n.-1077C>A
XM_006721516.2:c.-59G>T (ACADVL)	XP_006721579.2:n.-59G>T
XM_011523829.1:c.-59G>T (ACADVL)	XP_011522131.1:n.-59G>T
XM_011523830.1:c.-59G>T (ACADVL)	XP_011522132.1:n.-59G>T
XR_934021.1:n.49G>T (ACADVL)
XR_934022.1:n.49G>T (ACADVL)
XR_934023.1:n.49G>T (ACADVL)
NM_001321074.1:c.-1077C>A (DLG4)	NP_001308003.1:n.-1077C>A
NM_001365.4:c.-1077C>A (DLG4)	NP_001356.1:n.-1077C>A
NR_135527.1:n.125C>A (DLG4)
XM_006721516.3:c.-59G>T (ACADVL)	XP_006721579.2:n.-59G>T
XM_011523829.2:c.-59G>T (ACADVL)	XP_011522131.1:n.-59G>T
XM_011523830.2:c.-59G>T (ACADVL)	XP_011522132.1:n.-59G>T
XM_024450741.1:c.-59G>T (ACADVL)	XP_024306509.1:n.-59G>T
XR_934021.2:n.1G>T (ACADVL)
XR_934022.2:n.1G>T (ACADVL)
XR_934023.2:n.1G>T (ACADVL)
NM_001270447.2:c.132-196G>T (ACADVL)	NP_001257376.1:n.132-196G>T