Canonical Allele Identifier: CA497694118
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 1594874
ClinVar RCV Id: RCV002108156
dbSNP Id: rs2142984490
gnomAD v4: 17-7223703-G-A
MyVariant Identifiers: chr17:g.7127022G>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223703G>A , CM000679.2:g.7223703G>A GRCh38
NC_000017.10:g.7127022G>A , CM000679.1:g.7127022G>A GRCh37
NC_000017.9:g.7067746G>A NCBI36
NG_007975.1:g.8870G>A
NG_008391.2:g.1348C>T
NG_033038.1:g.15842C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1242G>A MANE Select ENSP00000349297.5:p.Glu414=
ENST00000322910.9:c.*1197G>A ENSP00000325395.5:n.*1197G>A
ENST00000350303.9:c.1176G>A ENSP00000344152.5:p.Glu392=
ENST00000356839.9:c.1242G>A ENSP00000349297.5:p.Glu414=
ENST00000542255.6:c.100G>A
ENST00000543245.6:c.1311G>A ENSP00000438689.2:p.Glu437=
ENST00000578579.2:n.413G>A
ENST00000578711.1:n.199G>A
ENST00000578824.5:n.658G>A
ENST00000579425.5:n.266G>A
ENST00000579546.1:c.79G>A
ENST00000583850.5:n.17G>A
ENST00000583858.5:c.271G>A
ENST00000585203.6:n.450G>A
NM_000018.3:c.1242G>A NP_000009.1:p.Glu414=
NM_001033859.2:c.1176G>A NP_001029031.1:p.Glu392=
NM_001270447.1:c.1311G>A NP_001257376.1:p.Glu437=
NM_001270448.1:c.1014G>A NP_001257377.1:p.Glu338=
XM_006721516.2:c.1242G>A XP_006721579.2:p.Glu414=
XM_011523829.1:c.1242G>A XP_011522131.1:p.Glu414=
XM_011523830.1:c.1242G>A XP_011522132.1:p.Glu414=
XR_934021.1:n.1349G>A
XR_934022.1:n.1349G>A
XR_934023.1:n.1349G>A
XM_006721516.3:c.1242G>A XP_006721579.2:p.Glu414=
XM_011523829.2:c.1242G>A XP_011522131.1:p.Glu414=
XM_011523830.2:c.1242G>A XP_011522132.1:p.Glu414=
XM_024450741.1:c.1242G>A XP_024306509.1:p.Glu414=
XR_934021.2:n.1301G>A
XR_934022.2:n.1301G>A
XR_934023.2:n.1301G>A
NM_000018.4:c.1242G>A MANE Select NP_000009.1:p.Glu414=
NM_001033859.3:c.1176G>A NP_001029031.1:p.Glu392=
NM_001270447.2:c.1311G>A NP_001257376.1:p.Glu437=
NM_001270448.2:c.1014G>A NP_001257377.1:p.Glu338=
Search 100 bp 5'
Search 100 bp 3'