Canonical Allele Identifier: CA497694333
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 1985158
ClinVar RCV Id: RCV002780562
dbSNP Id: rs1382426031
gnomAD v2: 17-7127843-G-A
gnomAD v4: 17-7224524-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224524G>A , CM000679.2:g.7224524G>A GRCh38
NC_000017.10:g.7127843G>A , CM000679.1:g.7127843G>A GRCh37
NC_000017.9:g.7068567G>A NCBI36
NG_007975.1:g.9691G>A
NG_008391.2:g.527C>T
NG_033038.1:g.15021C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1650G>A MANE Select ENSP00000349297.5:p.Lys550=
ENST00000322910.9:c.*1605G>A ENSP00000325395.5:n.*1605G>A
ENST00000350303.9:c.1584G>A ENSP00000344152.5:p.Lys528=
ENST00000356839.9:c.1650G>A ENSP00000349297.5:p.Lys550=
ENST00000542255.6:c.508G>A
ENST00000543245.6:c.1719G>A ENSP00000438689.2:p.Lys573=
ENST00000578319.5:n.231G>A
ENST00000578711.1:n.1020G>A
ENST00000578809.5:n.222G>A
ENST00000579391.1:n.254G>A
ENST00000579425.5:n.766G>A
ENST00000579546.1:c.385G>A
ENST00000582450.1:n.158G>A
ENST00000583074.5:n.271G>A
ENST00000583848.5:c.36G>A ENSP00000466487.1:p.Lys12=
ENST00000583850.5:n.421G>A
ENST00000583858.5:c.581G>A
ENST00000585203.6:n.841G>A
NM_000018.3:c.1650G>A NP_000009.1:p.Lys550=
NM_001033859.2:c.1584G>A NP_001029031.1:p.Lys528=
NM_001270447.1:c.1719G>A NP_001257376.1:p.Lys573=
NM_001270448.1:c.1422G>A NP_001257377.1:p.Lys474=
XM_006721516.2:c.1650G>A XP_006721579.2:p.Lys550=
XM_011523829.1:c.1548G>A XP_011522131.1:p.Lys516=
XM_011523830.1:c.1548G>A XP_011522132.1:p.Lys516=
XR_934021.1:n.1753G>A
XR_934022.1:n.1659G>A
XR_934023.1:n.1659G>A
XM_006721516.3:c.1650G>A XP_006721579.2:p.Lys550=
XM_011523829.2:c.1548G>A XP_011522131.1:p.Lys516=
XM_011523830.2:c.1548G>A XP_011522132.1:p.Lys516=
XM_024450741.1:c.1638G>A XP_024306509.1:p.Lys546=
XR_934021.2:n.1705G>A
XR_934022.2:n.1611G>A
XR_934023.2:n.1611G>A
NM_000018.4:c.1650G>A MANE Select NP_000009.1:p.Lys550=
NM_001033859.3:c.1584G>A NP_001029031.1:p.Lys528=
NM_001270447.2:c.1719G>A NP_001257376.1:p.Lys573=
NM_001270448.2:c.1422G>A NP_001257377.1:p.Lys474=