Canonical Allele Identifier: CA397725059
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 2727777
ClinVar RCV Id: RCV003499698
gnomAD v4: 17-7224048-T-G
MyVariant Identifiers: chr17:g.7127367T>G (hg19) chr17:g.7224048T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224048T>G , CM000679.2:g.7224048T>G GRCh38
NC_000017.10:g.7127367T>G , CM000679.1:g.7127367T>G GRCh37
NC_000017.9:g.7068091T>G NCBI36
NG_007975.1:g.9215T>G
NG_008391.2:g.1003A>C
NG_033038.1:g.15497A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1413T>G MANE Select ENSP00000349297.5:p.Phe471Leu
ENST00000322910.9:c.*1368T>G ENSP00000325395.5:n.*1368T>G
ENST00000350303.9:c.1347T>G ENSP00000344152.5:p.Phe449Leu
ENST00000356839.9:c.1413T>G ENSP00000349297.5:p.Phe471Leu
ENST00000542255.6:c.271T>G
ENST00000543245.6:c.1482T>G ENSP00000438689.2:p.Phe494Leu
ENST00000578711.1:n.544T>G
ENST00000579425.5:n.529T>G
ENST00000579546.1:c.250T>G
ENST00000579894.5:n.124T>G
ENST00000583074.5:n.132T>G
ENST00000583850.5:n.188T>G
ENST00000583858.5:c.442T>G
ENST00000585203.6:n.604T>G
NM_000018.3:c.1413T>G NP_000009.1:p.Phe471Leu
NM_001033859.2:c.1347T>G NP_001029031.1:p.Phe449Leu
NM_001270447.1:c.1482T>G NP_001257376.1:p.Phe494Leu
NM_001270448.1:c.1185T>G NP_001257377.1:p.Phe395Leu
XM_006721516.2:c.1413T>G XP_006721579.2:p.Phe471Leu
XM_011523829.1:c.1413T>G XP_011522131.1:p.Phe471Leu
XM_011523830.1:c.1413T>G XP_011522132.1:p.Phe471Leu
XR_934021.1:n.1520T>G
XR_934022.1:n.1520T>G
XR_934023.1:n.1520T>G
XM_006721516.3:c.1413T>G XP_006721579.2:p.Phe471Leu
XM_011523829.2:c.1413T>G XP_011522131.1:p.Phe471Leu
XM_011523830.2:c.1413T>G XP_011522132.1:p.Phe471Leu
XM_024450741.1:c.1413T>G XP_024306509.1:p.Phe471Leu
XR_934021.2:n.1472T>G
XR_934022.2:n.1472T>G
XR_934023.2:n.1472T>G
NM_000018.4:c.1413T>G MANE Select NP_000009.1:p.Phe471Leu
NM_001033859.3:c.1347T>G NP_001029031.1:p.Phe449Leu
NM_001270447.2:c.1482T>G NP_001257376.1:p.Phe494Leu
NM_001270448.2:c.1185T>G NP_001257377.1:p.Phe395Leu
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