Canonical Allele Identifier: CA16041873
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 371448
ClinVar RCV Id: RCV000411741
dbSNP Id: rs1057517280

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223966A>T , CM000679.2:g.7223966A>T GRCh38
NC_000017.10:g.7127285A>T , CM000679.1:g.7127285A>T GRCh37
NC_000017.9:g.7068009A>T NCBI36
NG_007975.1:g.9133A>T
NG_008391.2:g.1085T>A
NG_033038.1:g.15579T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.1333-2A>T MANE Select ENSP00000349297.5:n.1333-2A>T
ENST00000322910.9:c.*1288-2A>T ENSP00000325395.5:n.*1288-2A>T
ENST00000350303.9:c.1267-2A>T ENSP00000344152.5:n.1267-2A>T
ENST00000356839.9:c.1333-2A>T ENSP00000349297.5:n.1333-2A>T
ENST00000542255.6:c.191-2A>T
ENST00000543245.6:c.1402-2A>T ENSP00000438689.2:n.1402-2A>T
ENST00000578711.1:n.462A>T
ENST00000579425.5:n.447A>T
ENST00000579546.1:c.170-2A>T
ENST00000579894.5:n.42A>T
ENST00000583074.5:n.52-2A>T
ENST00000583850.5:n.108-2A>T
ENST00000583858.5:c.362-2A>T
ENST00000585203.6:n.524-2A>T
NM_000018.3:c.1333-2A>T NP_000009.1:n.1333-2A>T
NM_001033859.2:c.1267-2A>T NP_001029031.1:n.1267-2A>T
NM_001270447.1:c.1402-2A>T NP_001257376.1:n.1402-2A>T
NM_001270448.1:c.1105-2A>T NP_001257377.1:n.1105-2A>T
XM_006721516.2:c.1333-2A>T XP_006721579.2:n.1333-2A>T
XM_011523829.1:c.1333-2A>T XP_011522131.1:n.1333-2A>T
XM_011523830.1:c.1333-2A>T XP_011522132.1:n.1333-2A>T
XR_934021.1:n.1440-2A>T
XR_934022.1:n.1440-2A>T
XR_934023.1:n.1440-2A>T
XM_006721516.3:c.1333-2A>T XP_006721579.2:n.1333-2A>T
XM_011523829.2:c.1333-2A>T XP_011522131.1:n.1333-2A>T
XM_011523830.2:c.1333-2A>T XP_011522132.1:n.1333-2A>T
XM_024450741.1:c.1333-2A>T XP_024306509.1:n.1333-2A>T
XR_934021.2:n.1392-2A>T
XR_934022.2:n.1392-2A>T
XR_934023.2:n.1392-2A>T
NM_000018.4:c.1333-2A>T MANE Select NP_000009.1:n.1333-2A>T
NM_001033859.3:c.1267-2A>T NP_001029031.1:n.1267-2A>T
NM_001270447.2:c.1402-2A>T NP_001257376.1:n.1402-2A>T
NM_001270448.2:c.1105-2A>T NP_001257377.1:n.1105-2A>T