Canonical Allele Identifier: CA397723688
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 1476681
ClinVar RCV Id: RCV001998185
dbSNP Id: rs777747704
MyVariant Identifiers: chr17:g.7125529T>G (hg19) chr17:g.7222210T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222210T>G , CM000679.2:g.7222210T>G GRCh38
NC_000017.10:g.7125529T>G , CM000679.1:g.7125529T>G GRCh37
NC_000017.9:g.7066253T>G NCBI36
NG_007975.1:g.7377T>G
NG_008391.2:g.2841A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.786T>G MANE Select ENSP00000349297.5:p.Phe262Leu
ENST00000322910.9:c.*741T>G ENSP00000325395.5:n.*741T>G
ENST00000350303.9:c.720T>G ENSP00000344152.5:p.Phe240Leu
ENST00000356839.9:c.786T>G ENSP00000349297.5:p.Phe262Leu
ENST00000543245.6:c.855T>G ENSP00000438689.2:p.Phe285Leu
ENST00000577191.5:n.958T>G
ENST00000581378.5:c.504T>G
ENST00000582379.1:n.170T>G
NM_000018.3:c.786T>G NP_000009.1:p.Phe262Leu
NM_001033859.2:c.720T>G NP_001029031.1:p.Phe240Leu
NM_001270447.1:c.855T>G NP_001257376.1:p.Phe285Leu
NM_001270448.1:c.558T>G NP_001257377.1:p.Phe186Leu
XM_006721516.2:c.786T>G XP_006721579.2:p.Phe262Leu
XM_011523829.1:c.786T>G XP_011522131.1:p.Phe262Leu
XM_011523830.1:c.786T>G XP_011522132.1:p.Phe262Leu
XR_934021.1:n.893T>G
XR_934022.1:n.893T>G
XR_934023.1:n.893T>G
XM_006721516.3:c.786T>G XP_006721579.2:p.Phe262Leu
XM_011523829.2:c.786T>G XP_011522131.1:p.Phe262Leu
XM_011523830.2:c.786T>G XP_011522132.1:p.Phe262Leu
XM_024450741.1:c.786T>G XP_024306509.1:p.Phe262Leu
XR_934021.2:n.845T>G
XR_934022.2:n.845T>G
XR_934023.2:n.845T>G
NM_000018.4:c.786T>G MANE Select NP_000009.1:p.Phe262Leu
NM_001033859.3:c.720T>G NP_001029031.1:p.Phe240Leu
NM_001270447.2:c.855T>G NP_001257376.1:p.Phe285Leu
NM_001270448.2:c.558T>G NP_001257377.1:p.Phe186Leu
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