Canonical Allele Identifier: CA397725360
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 2107683
ClinVar RCV Id: RCV003017476
gnomAD v4: 17-7224340-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224340G>C , CM000679.2:g.7224340G>C GRCh38
NC_000017.10:g.7127659G>C , CM000679.1:g.7127659G>C GRCh37
NC_000017.9:g.7068383G>C NCBI36
NG_007975.1:g.9507G>C
NG_008391.2:g.711C>G
NG_033038.1:g.15205C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1552G>C MANE Select ENSP00000349297.5:p.Gly518Arg
ENST00000322910.9:c.*1507G>C ENSP00000325395.5:n.*1507G>C
ENST00000350303.9:c.1486G>C ENSP00000344152.5:p.Gly496Arg
ENST00000356839.9:c.1552G>C ENSP00000349297.5:p.Gly518Arg
ENST00000542255.6:c.410G>C
ENST00000543245.6:c.1621G>C ENSP00000438689.2:p.Gly541Arg
ENST00000578319.5:n.47G>C
ENST00000578711.1:n.836G>C
ENST00000578809.5:n.124G>C
ENST00000579391.1:n.160G>C
ENST00000579425.5:n.668G>C
ENST00000579546.1:c.291G>C
ENST00000579894.5:n.339G>C
ENST00000582450.1:n.60G>C
ENST00000583074.5:n.173G>C
ENST00000583850.5:n.327G>C
ENST00000583858.5:c.483G>C
ENST00000585203.6:n.743G>C
NM_000018.3:c.1552G>C NP_000009.1:p.Gly518Arg
NM_001033859.2:c.1486G>C NP_001029031.1:p.Gly496Arg
NM_001270447.1:c.1621G>C NP_001257376.1:p.Gly541Arg
NM_001270448.1:c.1324G>C NP_001257377.1:p.Gly442Arg
XM_006721516.2:c.1552G>C XP_006721579.2:p.Gly518Arg
XM_011523829.1:c.1454G>C XP_011522131.1:p.Arg485Pro
XM_011523830.1:c.1454G>C XP_011522132.1:p.Arg485Pro
XR_934021.1:n.1659G>C
XR_934022.1:n.1561G>C
XR_934023.1:n.1561G>C
XM_006721516.3:c.1552G>C XP_006721579.2:p.Gly518Arg
XM_011523829.2:c.1454G>C XP_011522131.1:p.Arg485Pro
XM_011523830.2:c.1454G>C XP_011522132.1:p.Arg485Pro
XM_024450741.1:c.1454G>C XP_024306509.1:p.Arg485Pro
XR_934021.2:n.1611G>C
XR_934022.2:n.1513G>C
XR_934023.2:n.1513G>C
NM_000018.4:c.1552G>C MANE Select NP_000009.1:p.Gly518Arg
NM_001033859.3:c.1486G>C NP_001029031.1:p.Gly496Arg
NM_001270447.2:c.1621G>C NP_001257376.1:p.Gly541Arg
NM_001270448.2:c.1324G>C NP_001257377.1:p.Gly442Arg