Canonical Allele Identifier: CA397722612
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 2028394
ClinVar RCV Id: RCV002876117
dbSNP Id: rs1567561598

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7220825T>A , CM000679.2:g.7220825T>A GRCh38
NC_000017.10:g.7124144T>A , CM000679.1:g.7124144T>A GRCh37
NC_000017.9:g.7064868T>A NCBI36
NG_007975.1:g.5992T>A
NG_008391.2:g.4226A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.337T>A MANE Select ENSP00000349297.5:p.Phe113Ile
ENST00000322910.9:c.*292T>A ENSP00000325395.5:n.*292T>A
ENST00000350303.9:c.271T>A ENSP00000344152.5:p.Phe91Ile
ENST00000356839.9:c.337T>A ENSP00000349297.5:p.Phe113Ile
ENST00000543245.6:c.406T>A ENSP00000438689.2:p.Phe136Ile
ENST00000577191.5:n.414T>A
ENST00000577433.5:n.545T>A
ENST00000577857.5:n.288T>A
ENST00000579286.5:n.518T>A
ENST00000579886.2:c.202-120T>A ENSP00000463246.1:n.202-120T>A
ENST00000580365.1:n.68T>A
ENST00000581378.5:c.36T>A
ENST00000581562.5:n.384T>A
ENST00000582056.5:n.427T>A
ENST00000582166.1:n.225T>A
ENST00000582356.5:n.536T>A
ENST00000583312.5:c.337T>A ENSP00000467920.1:p.Phe113Ile
ENST00000584103.5:c.337T>A ENSP00000465353.1:p.Phe113Ile
NM_000018.3:c.337T>A NP_000009.1:p.Phe113Ile
NM_001033859.2:c.271T>A NP_001029031.1:p.Phe91Ile
NM_001270447.1:c.406T>A NP_001257376.1:p.Phe136Ile
NM_001270448.1:c.109T>A NP_001257377.1:p.Phe37Ile
XM_006721516.2:c.337T>A XP_006721579.2:p.Phe113Ile
XM_011523829.1:c.337T>A XP_011522131.1:p.Phe113Ile
XM_011523830.1:c.337T>A XP_011522132.1:p.Phe113Ile
XR_934021.1:n.444T>A
XR_934022.1:n.444T>A
XR_934023.1:n.444T>A
XM_006721516.3:c.337T>A XP_006721579.2:p.Phe113Ile
XM_011523829.2:c.337T>A XP_011522131.1:p.Phe113Ile
XM_011523830.2:c.337T>A XP_011522132.1:p.Phe113Ile
XM_024450741.1:c.337T>A XP_024306509.1:p.Phe113Ile
XR_934021.2:n.396T>A
XR_934022.2:n.396T>A
XR_934023.2:n.396T>A
NM_000018.4:c.337T>A MANE Select NP_000009.1:p.Phe113Ile
NM_001033859.3:c.271T>A NP_001029031.1:p.Phe91Ile
NM_001270447.2:c.406T>A NP_001257376.1:p.Phe136Ile
NM_001270448.2:c.109T>A NP_001257377.1:p.Phe37Ile