Canonical Allele Identifier: CA397722613
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7220825-T-C

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.337T>C MANE Select ENSP00000349297.5:p.Phe113Leu
ENST00000322910.9:c.*292T>C ENSP00000325395.5:n.*292T>C
ENST00000350303.9:c.271T>C ENSP00000344152.5:p.Phe91Leu
ENST00000356839.9:c.337T>C ENSP00000349297.5:p.Phe113Leu
ENST00000543245.6:c.406T>C ENSP00000438689.2:p.Phe136Leu
ENST00000577191.5:n.414T>C
ENST00000577433.5:n.545T>C
ENST00000577857.5:n.288T>C
ENST00000579286.5:n.518T>C
ENST00000579886.2:c.202-120T>C ENSP00000463246.1:n.202-120T>C
ENST00000580365.1:n.68T>C
ENST00000581378.5:c.36T>C
ENST00000581562.5:n.384T>C
ENST00000582056.5:n.427T>C
ENST00000582166.1:n.225T>C
ENST00000582356.5:n.536T>C
ENST00000583312.5:c.337T>C ENSP00000467920.1:p.Phe113Leu
ENST00000584103.5:c.337T>C ENSP00000465353.1:p.Phe113Leu
NM_000018.3:c.337T>C NP_000009.1:p.Phe113Leu
NM_001033859.2:c.271T>C NP_001029031.1:p.Phe91Leu
NM_001270447.1:c.406T>C NP_001257376.1:p.Phe136Leu
NM_001270448.1:c.109T>C NP_001257377.1:p.Phe37Leu
XM_006721516.2:c.337T>C XP_006721579.2:p.Phe113Leu
XM_011523829.1:c.337T>C XP_011522131.1:p.Phe113Leu
XM_011523830.1:c.337T>C XP_011522132.1:p.Phe113Leu
XR_934021.1:n.444T>C
XR_934022.1:n.444T>C
XR_934023.1:n.444T>C
XM_006721516.3:c.337T>C XP_006721579.2:p.Phe113Leu
XM_011523829.2:c.337T>C XP_011522131.1:p.Phe113Leu
XM_011523830.2:c.337T>C XP_011522132.1:p.Phe113Leu
XM_024450741.1:c.337T>C XP_024306509.1:p.Phe113Leu
XR_934021.2:n.396T>C
XR_934022.2:n.396T>C
XR_934023.2:n.396T>C
NM_000018.4:c.337T>C MANE Select NP_000009.1:p.Phe113Leu
NM_001033859.3:c.271T>C NP_001029031.1:p.Phe91Leu
NM_001270447.2:c.406T>C NP_001257376.1:p.Phe136Leu
NM_001270448.2:c.109T>C NP_001257377.1:p.Phe37Leu