Canonical Allele Identifier: CA2739267105

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 2816301
• ClinVar RCV Id: RCV003601612

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223958C>T , CM000679.2:g.7223958C>T	GRCh38
NC_000017.10:g.7127277C>T , CM000679.1:g.7127277C>T	GRCh37
NC_000017.9:g.7068001C>T	NCBI36
NG_007975.1:g.9125C>T
NG_008391.2:g.1093G>A
NG_033038.1:g.15587G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1333-10C>T MANE Select	ENSP00000349297.5:n.1333-10C>T
ENST00000322910.9:c.*1288-10C>T	ENSP00000325395.5:n.*1288-10C>T
ENST00000350303.9:c.1267-10C>T	ENSP00000344152.5:n.1267-10C>T
ENST00000356839.9:c.1333-10C>T	ENSP00000349297.5:n.1333-10C>T
ENST00000542255.6:c.191-10C>T
ENST00000543245.6:c.1402-10C>T	ENSP00000438689.2:n.1402-10C>T
ENST00000578711.1:n.454C>T
ENST00000579425.5:n.439C>T
ENST00000579546.1:c.170-10C>T
ENST00000579894.5:n.34C>T
ENST00000583074.5:n.52-10C>T
ENST00000583850.5:n.108-10C>T
ENST00000583858.5:c.362-10C>T
ENST00000585203.6:n.524-10C>T
NM_000018.3:c.1333-10C>T	NP_000009.1:n.1333-10C>T
NM_001033859.2:c.1267-10C>T	NP_001029031.1:n.1267-10C>T
NM_001270447.1:c.1402-10C>T	NP_001257376.1:n.1402-10C>T
NM_001270448.1:c.1105-10C>T	NP_001257377.1:n.1105-10C>T
XM_006721516.2:c.1333-10C>T	XP_006721579.2:n.1333-10C>T
XM_011523829.1:c.1333-10C>T	XP_011522131.1:n.1333-10C>T
XM_011523830.1:c.1333-10C>T	XP_011522132.1:n.1333-10C>T
XR_934021.1:n.1440-10C>T
XR_934022.1:n.1440-10C>T
XR_934023.1:n.1440-10C>T
XM_006721516.3:c.1333-10C>T	XP_006721579.2:n.1333-10C>T
XM_011523829.2:c.1333-10C>T	XP_011522131.1:n.1333-10C>T
XM_011523830.2:c.1333-10C>T	XP_011522132.1:n.1333-10C>T
XM_024450741.1:c.1333-10C>T	XP_024306509.1:n.1333-10C>T
XR_934021.2:n.1392-10C>T
XR_934022.2:n.1392-10C>T
XR_934023.2:n.1392-10C>T
NM_000018.4:c.1333-10C>T MANE Select	NP_000009.1:n.1333-10C>T
NM_001033859.3:c.1267-10C>T	NP_001029031.1:n.1267-10C>T
NM_001270447.2:c.1402-10C>T	NP_001257376.1:n.1402-10C>T
NM_001270448.2:c.1105-10C>T	NP_001257377.1:n.1105-10C>T