Canonical Allele Identifier: CA1139665154

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 957935
• ClinVar RCV Id: RCV001231006
• dbSNP Id: rs2071368248

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224249C>T , CM000679.2:g.7224249C>T	GRCh38
NC_000017.10:g.7127568C>T , CM000679.1:g.7127568C>T	GRCh37
NC_000017.9:g.7068292C>T	NCBI36
NG_007975.1:g.9416C>T
NG_008391.2:g.802G>A
NG_033038.1:g.15296G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1532+6C>T MANE Select	ENSP00000349297.5:n.1532+6C>T
ENST00000322910.9:c.*1487+6C>T	ENSP00000325395.5:n.*1487+6C>T
ENST00000350303.9:c.1466+6C>T	ENSP00000344152.5:n.1466+6C>T
ENST00000356839.9:c.1532+6C>T	ENSP00000349297.5:n.1532+6C>T
ENST00000542255.6:c.390+6C>T
ENST00000543245.6:c.1601+6C>T	ENSP00000438689.2:n.1601+6C>T
ENST00000578319.5:n.27+6C>T
ENST00000578711.1:n.745C>T
ENST00000578809.5:n.33C>T
ENST00000579391.1:n.140+6C>T
ENST00000579425.5:n.648+6C>T
ENST00000579546.1:c.272-72C>T
ENST00000579894.5:n.319+6C>T
ENST00000583074.5:n.154-72C>T
ENST00000583850.5:n.307+6C>T
ENST00000583858.5:c.464-72C>T
ENST00000585203.6:n.723+6C>T
NM_000018.3:c.1532+6C>T	NP_000009.1:n.1532+6C>T
NM_001033859.2:c.1466+6C>T	NP_001029031.1:n.1466+6C>T
NM_001270447.1:c.1601+6C>T	NP_001257376.1:n.1601+6C>T
NM_001270448.1:c.1304+6C>T	NP_001257377.1:n.1304+6C>T
XM_006721516.2:c.1532+6C>T	XP_006721579.2:n.1532+6C>T
XM_011523829.1:c.1435-72C>T	XP_011522131.1:n.1435-72C>T
XM_011523830.1:c.1435-72C>T	XP_011522132.1:n.1435-72C>T
XR_934021.1:n.1639+6C>T
XR_934022.1:n.1542-72C>T
XR_934023.1:n.1542-72C>T
XM_006721516.3:c.1532+6C>T	XP_006721579.2:n.1532+6C>T
XM_011523829.2:c.1435-72C>T	XP_011522131.1:n.1435-72C>T
XM_011523830.2:c.1435-72C>T	XP_011522132.1:n.1435-72C>T
XM_024450741.1:c.1435-72C>T	XP_024306509.1:n.1435-72C>T
XR_934021.2:n.1591+6C>T
XR_934022.2:n.1494-72C>T
XR_934023.2:n.1494-72C>T
NM_000018.4:c.1532+6C>T MANE Select	NP_000009.1:n.1532+6C>T
NM_001033859.3:c.1466+6C>T	NP_001029031.1:n.1466+6C>T
NM_001270447.2:c.1601+6C>T	NP_001257376.1:n.1601+6C>T
NM_001270448.2:c.1304+6C>T	NP_001257377.1:n.1304+6C>T