Canonical Allele Identifier: CA397724611
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7223675-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223675A>C , CM000679.2:g.7223675A>C GRCh38
NC_000017.10:g.7126994A>C , CM000679.1:g.7126994A>C GRCh37
NC_000017.9:g.7067718A>C NCBI36
NG_007975.1:g.8842A>C
NG_008391.2:g.1376T>G
NG_033038.1:g.15870T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1214A>C MANE Select ENSP00000349297.5:p.Asp405Ala
ENST00000322910.9:c.*1169A>C ENSP00000325395.5:n.*1169A>C
ENST00000350303.9:c.1148A>C ENSP00000344152.5:p.Asp383Ala
ENST00000356839.9:c.1214A>C ENSP00000349297.5:p.Asp405Ala
ENST00000542255.6:c.72A>C
ENST00000543245.6:c.1283A>C ENSP00000438689.2:p.Asp428Ala
ENST00000578579.2:n.385A>C
ENST00000578711.1:n.171A>C
ENST00000578824.5:n.630A>C
ENST00000579425.5:n.238A>C
ENST00000579546.1:c.51A>C
ENST00000583858.5:c.243A>C
ENST00000585203.6:n.422A>C
NM_000018.3:c.1214A>C NP_000009.1:p.Asp405Ala
NM_001033859.2:c.1148A>C NP_001029031.1:p.Asp383Ala
NM_001270447.1:c.1283A>C NP_001257376.1:p.Asp428Ala
NM_001270448.1:c.986A>C NP_001257377.1:p.Asp329Ala
XM_006721516.2:c.1214A>C XP_006721579.2:p.Asp405Ala
XM_011523829.1:c.1214A>C XP_011522131.1:p.Asp405Ala
XM_011523830.1:c.1214A>C XP_011522132.1:p.Asp405Ala
XR_934021.1:n.1321A>C
XR_934022.1:n.1321A>C
XR_934023.1:n.1321A>C
XM_006721516.3:c.1214A>C XP_006721579.2:p.Asp405Ala
XM_011523829.2:c.1214A>C XP_011522131.1:p.Asp405Ala
XM_011523830.2:c.1214A>C XP_011522132.1:p.Asp405Ala
XM_024450741.1:c.1214A>C XP_024306509.1:p.Asp405Ala
XR_934021.2:n.1273A>C
XR_934022.2:n.1273A>C
XR_934023.2:n.1273A>C
NM_000018.4:c.1214A>C MANE Select NP_000009.1:p.Asp405Ala
NM_001033859.3:c.1148A>C NP_001029031.1:p.Asp383Ala
NM_001270447.2:c.1283A>C NP_001257376.1:p.Asp428Ala
NM_001270448.2:c.986A>C NP_001257377.1:p.Asp329Ala