Canonical Allele Identifier: CA1139665151

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 935702
• ClinVar RCV Id: RCV001204349
• dbSNP Id: rs1057523216

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223965T>G , CM000679.2:g.7223965T>G	GRCh38
NC_000017.10:g.7127284T>G , CM000679.1:g.7127284T>G	GRCh37
NC_000017.9:g.7068008T>G	NCBI36
NG_007975.1:g.9132T>G
NG_008391.2:g.1086A>C
NG_033038.1:g.15580A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1333-3T>G MANE Select	ENSP00000349297.5:n.1333-3T>G
ENST00000322910.9:c.*1288-3T>G	ENSP00000325395.5:n.*1288-3T>G
ENST00000350303.9:c.1267-3T>G	ENSP00000344152.5:n.1267-3T>G
ENST00000356839.9:c.1333-3T>G	ENSP00000349297.5:n.1333-3T>G
ENST00000542255.6:c.191-3T>G
ENST00000543245.6:c.1402-3T>G	ENSP00000438689.2:n.1402-3T>G
ENST00000578711.1:n.461T>G
ENST00000579425.5:n.446T>G
ENST00000579546.1:c.170-3T>G
ENST00000579894.5:n.41T>G
ENST00000583074.5:n.52-3T>G
ENST00000583850.5:n.108-3T>G
ENST00000583858.5:c.362-3T>G
ENST00000585203.6:n.524-3T>G
NM_000018.3:c.1333-3T>G	NP_000009.1:n.1333-3T>G
NM_001033859.2:c.1267-3T>G	NP_001029031.1:n.1267-3T>G
NM_001270447.1:c.1402-3T>G	NP_001257376.1:n.1402-3T>G
NM_001270448.1:c.1105-3T>G	NP_001257377.1:n.1105-3T>G
XM_006721516.2:c.1333-3T>G	XP_006721579.2:n.1333-3T>G
XM_011523829.1:c.1333-3T>G	XP_011522131.1:n.1333-3T>G
XM_011523830.1:c.1333-3T>G	XP_011522132.1:n.1333-3T>G
XR_934021.1:n.1440-3T>G
XR_934022.1:n.1440-3T>G
XR_934023.1:n.1440-3T>G
XM_006721516.3:c.1333-3T>G	XP_006721579.2:n.1333-3T>G
XM_011523829.2:c.1333-3T>G	XP_011522131.1:n.1333-3T>G
XM_011523830.2:c.1333-3T>G	XP_011522132.1:n.1333-3T>G
XM_024450741.1:c.1333-3T>G	XP_024306509.1:n.1333-3T>G
XR_934021.2:n.1392-3T>G
XR_934022.2:n.1392-3T>G
XR_934023.2:n.1392-3T>G
NM_000018.4:c.1333-3T>G MANE Select	NP_000009.1:n.1333-3T>G
NM_001033859.3:c.1267-3T>G	NP_001029031.1:n.1267-3T>G
NM_001270447.2:c.1402-3T>G	NP_001257376.1:n.1402-3T>G
NM_001270448.2:c.1105-3T>G	NP_001257377.1:n.1105-3T>G