Canonical Allele Identifier: CA240224
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 194316
ClinVar RCV Id: RCV000174653 RCV000410559
dbSNP Id: rs794727112
gnomAD v4: 17-7224002-G-A
COSMIC: COSM983831
MyVariant Identifiers: chr17:g.7127321G>A (hg19) chr17:g.7224002G>A (hg38)
ERepo: CA240224/MONDO:0008723/021
PubMed: PMID:9973285 PMID:17206456 PMID:23891399
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224002G>A , CM000679.2:g.7224002G>A GRCh38
NC_000017.10:g.7127321G>A , CM000679.1:g.7127321G>A GRCh37
NC_000017.9:g.7068045G>A NCBI36
NG_007975.1:g.9169G>A
NG_008391.2:g.1049C>T
NG_033038.1:g.15543C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1367G>A MANE Select ENSP00000349297.5:p.Arg456His
ENST00000322910.9:c.*1322G>A ENSP00000325395.5:n.*1322G>A
ENST00000350303.9:c.1301G>A ENSP00000344152.5:p.Arg434His
ENST00000356839.9:c.1367G>A ENSP00000349297.5:p.Arg456His
ENST00000542255.6:c.225G>A
ENST00000543245.6:c.1436G>A ENSP00000438689.2:p.Arg479His
ENST00000578711.1:n.498G>A
ENST00000579425.5:n.483G>A
ENST00000579546.1:c.204G>A
ENST00000579894.5:n.78G>A
ENST00000583074.5:n.86G>A
ENST00000583850.5:n.142G>A
ENST00000583858.5:c.396G>A
ENST00000585203.6:n.558G>A
NM_000018.3:c.1367G>A NP_000009.1:p.Arg456His
NM_001033859.2:c.1301G>A NP_001029031.1:p.Arg434His
NM_001270447.1:c.1436G>A NP_001257376.1:p.Arg479His
NM_001270448.1:c.1139G>A NP_001257377.1:p.Arg380His
XM_006721516.2:c.1367G>A XP_006721579.2:p.Arg456His
XM_011523829.1:c.1367G>A XP_011522131.1:p.Arg456His
XM_011523830.1:c.1367G>A XP_011522132.1:p.Arg456His
XR_934021.1:n.1474G>A
XR_934022.1:n.1474G>A
XR_934023.1:n.1474G>A
XM_006721516.3:c.1367G>A XP_006721579.2:p.Arg456His
XM_011523829.2:c.1367G>A XP_011522131.1:p.Arg456His
XM_011523830.2:c.1367G>A XP_011522132.1:p.Arg456His
XM_024450741.1:c.1367G>A XP_024306509.1:p.Arg456His
XR_934021.2:n.1426G>A
XR_934022.2:n.1426G>A
XR_934023.2:n.1426G>A
NM_000018.4:c.1367G>A MANE Select NP_000009.1:p.Arg456His
NM_001033859.3:c.1301G>A NP_001029031.1:p.Arg434His
NM_001270447.2:c.1436G>A NP_001257376.1:p.Arg479His
NM_001270448.2:c.1139G>A NP_001257377.1:p.Arg380His
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