Canonical Allele Identifier: CA397724724
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7223726-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223726G>C , CM000679.2:g.7223726G>C GRCh38
NC_000017.10:g.7127045G>C , CM000679.1:g.7127045G>C GRCh37
NC_000017.9:g.7067769G>C NCBI36
NG_007975.1:g.8893G>C
NG_008391.2:g.1325C>G
NG_033038.1:g.15819C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1265G>C MANE Select ENSP00000349297.5:p.Gly422Ala
ENST00000322910.9:c.*1220G>C ENSP00000325395.5:n.*1220G>C
ENST00000350303.9:c.1199G>C ENSP00000344152.5:p.Gly400Ala
ENST00000356839.9:c.1265G>C ENSP00000349297.5:p.Gly422Ala
ENST00000542255.6:c.123G>C
ENST00000543245.6:c.1334G>C ENSP00000438689.2:p.Gly445Ala
ENST00000578579.2:n.436G>C
ENST00000578711.1:n.222G>C
ENST00000578824.5:n.681G>C
ENST00000579425.5:n.289G>C
ENST00000579546.1:c.102G>C
ENST00000583850.5:n.40G>C
ENST00000583858.5:c.294G>C
ENST00000585203.6:n.473G>C
NM_000018.3:c.1265G>C NP_000009.1:p.Gly422Ala
NM_001033859.2:c.1199G>C NP_001029031.1:p.Gly400Ala
NM_001270447.1:c.1334G>C NP_001257376.1:p.Gly445Ala
NM_001270448.1:c.1037G>C NP_001257377.1:p.Gly346Ala
XM_006721516.2:c.1265G>C XP_006721579.2:p.Gly422Ala
XM_011523829.1:c.1265G>C XP_011522131.1:p.Gly422Ala
XM_011523830.1:c.1265G>C XP_011522132.1:p.Gly422Ala
XR_934021.1:n.1372G>C
XR_934022.1:n.1372G>C
XR_934023.1:n.1372G>C
XM_006721516.3:c.1265G>C XP_006721579.2:p.Gly422Ala
XM_011523829.2:c.1265G>C XP_011522131.1:p.Gly422Ala
XM_011523830.2:c.1265G>C XP_011522132.1:p.Gly422Ala
XM_024450741.1:c.1265G>C XP_024306509.1:p.Gly422Ala
XR_934021.2:n.1324G>C
XR_934022.2:n.1324G>C
XR_934023.2:n.1324G>C
NM_000018.4:c.1265G>C MANE Select NP_000009.1:p.Gly422Ala
NM_001033859.3:c.1199G>C NP_001029031.1:p.Gly400Ala
NM_001270447.2:c.1334G>C NP_001257376.1:p.Gly445Ala
NM_001270448.2:c.1037G>C NP_001257377.1:p.Gly346Ala