Canonical Allele Identifier: CA8338094
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 2671895
ClinVar RCV Id: RCV003455819
dbSNP Id: rs748964823
ExAC: 17:7127365 T / C
gnomAD v2: 17-7127365-T-C
gnomAD v4: 17-7224046-T-C
MyVariant Identifiers: chr17:g.7127365T>C (hg19) chr17:g.7224046T>C (hg38)
ERepo: CA8338094/MONDO:0008723/021
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224046T>C , CM000679.2:g.7224046T>C GRCh38
NC_000017.10:g.7127365T>C , CM000679.1:g.7127365T>C GRCh37
NC_000017.9:g.7068089T>C NCBI36
NG_007975.1:g.9213T>C
NG_008391.2:g.1005A>G
NG_033038.1:g.15499A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1411T>C MANE Select ENSP00000349297.5:p.Phe471Leu
ENST00000322910.9:c.*1366T>C ENSP00000325395.5:n.*1366T>C
ENST00000350303.9:c.1345T>C ENSP00000344152.5:p.Phe449Leu
ENST00000356839.9:c.1411T>C ENSP00000349297.5:p.Phe471Leu
ENST00000542255.6:c.269T>C
ENST00000543245.6:c.1480T>C ENSP00000438689.2:p.Phe494Leu
ENST00000578711.1:n.542T>C
ENST00000579425.5:n.527T>C
ENST00000579546.1:c.248T>C
ENST00000579894.5:n.122T>C
ENST00000583074.5:n.130T>C
ENST00000583850.5:n.186T>C
ENST00000583858.5:c.440T>C
ENST00000585203.6:n.602T>C
NM_000018.3:c.1411T>C NP_000009.1:p.Phe471Leu
NM_001033859.2:c.1345T>C NP_001029031.1:p.Phe449Leu
NM_001270447.1:c.1480T>C NP_001257376.1:p.Phe494Leu
NM_001270448.1:c.1183T>C NP_001257377.1:p.Phe395Leu
XM_006721516.2:c.1411T>C XP_006721579.2:p.Phe471Leu
XM_011523829.1:c.1411T>C XP_011522131.1:p.Phe471Leu
XM_011523830.1:c.1411T>C XP_011522132.1:p.Phe471Leu
XR_934021.1:n.1518T>C
XR_934022.1:n.1518T>C
XR_934023.1:n.1518T>C
XM_006721516.3:c.1411T>C XP_006721579.2:p.Phe471Leu
XM_011523829.2:c.1411T>C XP_011522131.1:p.Phe471Leu
XM_011523830.2:c.1411T>C XP_011522132.1:p.Phe471Leu
XM_024450741.1:c.1411T>C XP_024306509.1:p.Phe471Leu
XR_934021.2:n.1470T>C
XR_934022.2:n.1470T>C
XR_934023.2:n.1470T>C
NM_000018.4:c.1411T>C MANE Select NP_000009.1:p.Phe471Leu
NM_001033859.3:c.1345T>C NP_001029031.1:p.Phe449Leu
NM_001270447.2:c.1480T>C NP_001257376.1:p.Phe494Leu
NM_001270448.2:c.1183T>C NP_001257377.1:p.Phe395Leu
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