Canonical Allele Identifier: CA397723026
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs1248423287
gnomAD v2: 17-7124873-A-C
gnomAD v4: 17-7221554-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221554A>C , CM000679.2:g.7221554A>C GRCh38
NC_000017.10:g.7124873A>C , CM000679.1:g.7124873A>C GRCh37
NC_000017.9:g.7065597A>C NCBI36
NG_007975.1:g.6721A>C
NG_008391.2:g.3497T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.494A>C MANE Select ENSP00000349297.5:p.Glu165Ala
ENST00000322910.9:c.*449A>C ENSP00000325395.5:n.*449A>C
ENST00000350303.9:c.428A>C ENSP00000344152.5:p.Glu143Ala
ENST00000356839.9:c.494A>C ENSP00000349297.5:p.Glu165Ala
ENST00000543245.6:c.563A>C ENSP00000438689.2:p.Glu188Ala
ENST00000577191.5:n.571A>C
ENST00000577433.5:n.702A>C
ENST00000577857.5:n.310A>C
ENST00000579286.5:n.675A>C
ENST00000579886.2:c.332A>C ENSP00000463246.1:p.Glu111Ala
ENST00000580365.1:n.225A>C
ENST00000581378.5:c.212A>C
ENST00000581562.5:n.525-398A>C
ENST00000582166.1:n.475A>C
ENST00000583312.5:c.494A>C ENSP00000467920.1:p.Glu165Ala
ENST00000583760.1:n.276A>C
NM_000018.3:c.494A>C NP_000009.1:p.Glu165Ala
NM_001033859.2:c.428A>C NP_001029031.1:p.Glu143Ala
NM_001270447.1:c.563A>C NP_001257376.1:p.Glu188Ala
NM_001270448.1:c.266A>C NP_001257377.1:p.Glu89Ala
XM_006721516.2:c.494A>C XP_006721579.2:p.Glu165Ala
XM_011523829.1:c.494A>C XP_011522131.1:p.Glu165Ala
XM_011523830.1:c.494A>C XP_011522132.1:p.Glu165Ala
XR_934021.1:n.601A>C
XR_934022.1:n.601A>C
XR_934023.1:n.601A>C
XM_006721516.3:c.494A>C XP_006721579.2:p.Glu165Ala
XM_011523829.2:c.494A>C XP_011522131.1:p.Glu165Ala
XM_011523830.2:c.494A>C XP_011522132.1:p.Glu165Ala
XM_024450741.1:c.494A>C XP_024306509.1:p.Glu165Ala
XR_934021.2:n.553A>C
XR_934022.2:n.553A>C
XR_934023.2:n.553A>C
NM_000018.4:c.494A>C MANE Select NP_000009.1:p.Glu165Ala
NM_001033859.3:c.428A>C NP_001029031.1:p.Glu143Ala
NM_001270447.2:c.563A>C NP_001257376.1:p.Glu188Ala
NM_001270448.2:c.266A>C NP_001257377.1:p.Glu89Ala