Canonical Allele Identifier: CA397724653
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7223694-C-A
MyVariant Identifiers: chr17:g.7127013C>A (hg19) chr17:g.7223694C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223694C>A , CM000679.2:g.7223694C>A GRCh38
NC_000017.10:g.7127013C>A , CM000679.1:g.7127013C>A GRCh37
NC_000017.9:g.7067737C>A NCBI36
NG_007975.1:g.8861C>A
NG_008391.2:g.1357G>T
NG_033038.1:g.15851G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1233C>A MANE Select ENSP00000349297.5:p.Phe411Leu
ENST00000322910.9:c.*1188C>A ENSP00000325395.5:n.*1188C>A
ENST00000350303.9:c.1167C>A ENSP00000344152.5:p.Phe389Leu
ENST00000356839.9:c.1233C>A ENSP00000349297.5:p.Phe411Leu
ENST00000542255.6:c.91C>A
ENST00000543245.6:c.1302C>A ENSP00000438689.2:p.Phe434Leu
ENST00000578579.2:n.404C>A
ENST00000578711.1:n.190C>A
ENST00000578824.5:n.649C>A
ENST00000579425.5:n.257C>A
ENST00000579546.1:c.70C>A
ENST00000583850.5:n.8C>A
ENST00000583858.5:c.262C>A
ENST00000585203.6:n.441C>A
NM_000018.3:c.1233C>A NP_000009.1:p.Phe411Leu
NM_001033859.2:c.1167C>A NP_001029031.1:p.Phe389Leu
NM_001270447.1:c.1302C>A NP_001257376.1:p.Phe434Leu
NM_001270448.1:c.1005C>A NP_001257377.1:p.Phe335Leu
XM_006721516.2:c.1233C>A XP_006721579.2:p.Phe411Leu
XM_011523829.1:c.1233C>A XP_011522131.1:p.Phe411Leu
XM_011523830.1:c.1233C>A XP_011522132.1:p.Phe411Leu
XR_934021.1:n.1340C>A
XR_934022.1:n.1340C>A
XR_934023.1:n.1340C>A
XM_006721516.3:c.1233C>A XP_006721579.2:p.Phe411Leu
XM_011523829.2:c.1233C>A XP_011522131.1:p.Phe411Leu
XM_011523830.2:c.1233C>A XP_011522132.1:p.Phe411Leu
XM_024450741.1:c.1233C>A XP_024306509.1:p.Phe411Leu
XR_934021.2:n.1292C>A
XR_934022.2:n.1292C>A
XR_934023.2:n.1292C>A
NM_000018.4:c.1233C>A MANE Select NP_000009.1:p.Phe411Leu
NM_001033859.3:c.1167C>A NP_001029031.1:p.Phe389Leu
NM_001270447.2:c.1302C>A NP_001257376.1:p.Phe434Leu
NM_001270448.2:c.1005C>A NP_001257377.1:p.Phe335Leu
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