Canonical Allele Identifier: CA497694127
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs2142985989
gnomAD v4: 17-7224012-G-A
MyVariant Identifiers: chr17:g.7127331G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224012G>A , CM000679.2:g.7224012G>A GRCh38
NC_000017.10:g.7127331G>A , CM000679.1:g.7127331G>A GRCh37
NC_000017.9:g.7068055G>A NCBI36
NG_007975.1:g.9179G>A
NG_008391.2:g.1039C>T
NG_033038.1:g.15533C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.1377G>A MANE Select ENSP00000349297.5:p.Arg459=
ENST00000322910.9:c.*1332G>A ENSP00000325395.5:n.*1332G>A
ENST00000350303.9:c.1311G>A ENSP00000344152.5:p.Arg437=
ENST00000356839.9:c.1377G>A ENSP00000349297.5:p.Arg459=
ENST00000542255.6:c.235G>A
ENST00000543245.6:c.1446G>A ENSP00000438689.2:p.Arg482=
ENST00000578711.1:n.508G>A
ENST00000579425.5:n.493G>A
ENST00000579546.1:c.214G>A
ENST00000579894.5:n.88G>A
ENST00000583074.5:n.96G>A
ENST00000583850.5:n.152G>A
ENST00000583858.5:c.406G>A
ENST00000585203.6:n.568G>A
NM_000018.3:c.1377G>A NP_000009.1:p.Arg459=
NM_001033859.2:c.1311G>A NP_001029031.1:p.Arg437=
NM_001270447.1:c.1446G>A NP_001257376.1:p.Arg482=
NM_001270448.1:c.1149G>A NP_001257377.1:p.Arg383=
XM_006721516.2:c.1377G>A XP_006721579.2:p.Arg459=
XM_011523829.1:c.1377G>A XP_011522131.1:p.Arg459=
XM_011523830.1:c.1377G>A XP_011522132.1:p.Arg459=
XR_934021.1:n.1484G>A
XR_934022.1:n.1484G>A
XR_934023.1:n.1484G>A
XM_006721516.3:c.1377G>A XP_006721579.2:p.Arg459=
XM_011523829.2:c.1377G>A XP_011522131.1:p.Arg459=
XM_011523830.2:c.1377G>A XP_011522132.1:p.Arg459=
XM_024450741.1:c.1377G>A XP_024306509.1:p.Arg459=
XR_934021.2:n.1436G>A
XR_934022.2:n.1436G>A
XR_934023.2:n.1436G>A
NM_000018.4:c.1377G>A MANE Select NP_000009.1:p.Arg459=
NM_001033859.3:c.1311G>A NP_001029031.1:p.Arg437=
NM_001270447.2:c.1446G>A NP_001257376.1:p.Arg482=
NM_001270448.2:c.1149G>A NP_001257377.1:p.Arg383=