Canonical Allele Identifier: CA397723456
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7125330A>C (hg19) chr17:g.7222011A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222011A>C , CM000679.2:g.7222011A>C GRCh38
NC_000017.10:g.7125330A>C , CM000679.1:g.7125330A>C GRCh37
NC_000017.9:g.7066054A>C NCBI36
NG_007975.1:g.7178A>C
NG_008391.2:g.3040T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.682A>C MANE Select ENSP00000349297.5:p.Ile228Leu
ENST00000322910.9:c.*637A>C ENSP00000325395.5:n.*637A>C
ENST00000350303.9:c.616A>C ENSP00000344152.5:p.Ile206Leu
ENST00000356839.9:c.682A>C ENSP00000349297.5:p.Ile228Leu
ENST00000543245.6:c.751A>C ENSP00000438689.2:p.Ile251Leu
ENST00000577191.5:n.759A>C
ENST00000577857.5:n.498A>C
ENST00000579286.5:n.863A>C
ENST00000580365.1:n.413A>C
ENST00000581378.5:c.400A>C
ENST00000582379.1:n.66A>C
ENST00000583760.1:n.464A>C
NM_000018.3:c.682A>C NP_000009.1:p.Ile228Leu
NM_001033859.2:c.616A>C NP_001029031.1:p.Ile206Leu
NM_001270447.1:c.751A>C NP_001257376.1:p.Ile251Leu
NM_001270448.1:c.454A>C NP_001257377.1:p.Ile152Leu
XM_006721516.2:c.682A>C XP_006721579.2:p.Ile228Leu
XM_011523829.1:c.682A>C XP_011522131.1:p.Ile228Leu
XM_011523830.1:c.682A>C XP_011522132.1:p.Ile228Leu
XR_934021.1:n.789A>C
XR_934022.1:n.789A>C
XR_934023.1:n.789A>C
XM_006721516.3:c.682A>C XP_006721579.2:p.Ile228Leu
XM_011523829.2:c.682A>C XP_011522131.1:p.Ile228Leu
XM_011523830.2:c.682A>C XP_011522132.1:p.Ile228Leu
XM_024450741.1:c.682A>C XP_024306509.1:p.Ile228Leu
XR_934021.2:n.741A>C
XR_934022.2:n.741A>C
XR_934023.2:n.741A>C
NM_000018.4:c.682A>C MANE Select NP_000009.1:p.Ile228Leu
NM_001033859.3:c.616A>C NP_001029031.1:p.Ile206Leu
NM_001270447.2:c.751A>C NP_001257376.1:p.Ile251Leu
NM_001270448.2:c.454A>C NP_001257377.1:p.Ile152Leu
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