Canonical Allele Identifier: CA397722736
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs2071181828
gnomAD v4: 17-7220940-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7220940C>T , CM000679.2:g.7220940C>T GRCh38
NC_000017.10:g.7124259C>T , CM000679.1:g.7124259C>T GRCh37
NC_000017.9:g.7064983C>T NCBI36
NG_007975.1:g.6107C>T
NG_008391.2:g.4111G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.359C>T MANE Select ENSP00000349297.5:p.Ala120Val
ENST00000322910.9:c.*314C>T ENSP00000325395.5:n.*314C>T
ENST00000350303.9:c.293C>T ENSP00000344152.5:p.Ala98Val
ENST00000356839.9:c.359C>T ENSP00000349297.5:p.Ala120Val
ENST00000543245.6:c.428C>T ENSP00000438689.2:p.Ala143Val
ENST00000577191.5:n.436C>T
ENST00000577433.5:n.567C>T
ENST00000577857.5:n.293+110C>T
ENST00000579286.5:n.540C>T
ENST00000579886.2:c.202-5C>T ENSP00000463246.1:n.202-5C>T
ENST00000580365.1:n.90C>T
ENST00000581378.5:c.58C>T
ENST00000581562.5:n.406C>T
ENST00000582056.5:n.542C>T
ENST00000582166.1:n.340C>T
ENST00000583312.5:c.359C>T ENSP00000467920.1:p.Ala120Val
ENST00000584103.5:c.392C>T ENSP00000465353.1:p.Ala131Val
NM_000018.3:c.359C>T NP_000009.1:p.Ala120Val
NM_001033859.2:c.293C>T NP_001029031.1:p.Ala98Val
NM_001270447.1:c.428C>T NP_001257376.1:p.Ala143Val
NM_001270448.1:c.131C>T NP_001257377.1:p.Ala44Val
XM_006721516.2:c.359C>T XP_006721579.2:p.Ala120Val
XM_011523829.1:c.359C>T XP_011522131.1:p.Ala120Val
XM_011523830.1:c.359C>T XP_011522132.1:p.Ala120Val
XR_934021.1:n.466C>T
XR_934022.1:n.466C>T
XR_934023.1:n.466C>T
XM_006721516.3:c.359C>T XP_006721579.2:p.Ala120Val
XM_011523829.2:c.359C>T XP_011522131.1:p.Ala120Val
XM_011523830.2:c.359C>T XP_011522132.1:p.Ala120Val
XM_024450741.1:c.359C>T XP_024306509.1:p.Ala120Val
XR_934021.2:n.418C>T
XR_934022.2:n.418C>T
XR_934023.2:n.418C>T
NM_000018.4:c.359C>T MANE Select NP_000009.1:p.Ala120Val
NM_001033859.3:c.293C>T NP_001029031.1:p.Ala98Val
NM_001270447.2:c.428C>T NP_001257376.1:p.Ala143Val
NM_001270448.2:c.131C>T NP_001257377.1:p.Ala44Val