Canonical Allele Identifier: CA397725006
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7127340G>T (hg19) chr17:g.7224021G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224021G>T , CM000679.2:g.7224021G>T GRCh38
NC_000017.10:g.7127340G>T , CM000679.1:g.7127340G>T GRCh37
NC_000017.9:g.7068064G>T NCBI36
NG_007975.1:g.9188G>T
NG_008391.2:g.1030C>A
NG_033038.1:g.15524C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1386G>T MANE Select ENSP00000349297.5:p.Glu462Asp
ENST00000322910.9:c.*1341G>T ENSP00000325395.5:n.*1341G>T
ENST00000350303.9:c.1320G>T ENSP00000344152.5:p.Glu440Asp
ENST00000356839.9:c.1386G>T ENSP00000349297.5:p.Glu462Asp
ENST00000542255.6:c.244G>T
ENST00000543245.6:c.1455G>T ENSP00000438689.2:p.Glu485Asp
ENST00000578711.1:n.517G>T
ENST00000579425.5:n.502G>T
ENST00000579546.1:c.223G>T
ENST00000579894.5:n.97G>T
ENST00000583074.5:n.105G>T
ENST00000583850.5:n.161G>T
ENST00000583858.5:c.415G>T
ENST00000585203.6:n.577G>T
NM_000018.3:c.1386G>T NP_000009.1:p.Glu462Asp
NM_001033859.2:c.1320G>T NP_001029031.1:p.Glu440Asp
NM_001270447.1:c.1455G>T NP_001257376.1:p.Glu485Asp
NM_001270448.1:c.1158G>T NP_001257377.1:p.Glu386Asp
XM_006721516.2:c.1386G>T XP_006721579.2:p.Glu462Asp
XM_011523829.1:c.1386G>T XP_011522131.1:p.Glu462Asp
XM_011523830.1:c.1386G>T XP_011522132.1:p.Glu462Asp
XR_934021.1:n.1493G>T
XR_934022.1:n.1493G>T
XR_934023.1:n.1493G>T
XM_006721516.3:c.1386G>T XP_006721579.2:p.Glu462Asp
XM_011523829.2:c.1386G>T XP_011522131.1:p.Glu462Asp
XM_011523830.2:c.1386G>T XP_011522132.1:p.Glu462Asp
XM_024450741.1:c.1386G>T XP_024306509.1:p.Glu462Asp
XR_934021.2:n.1445G>T
XR_934022.2:n.1445G>T
XR_934023.2:n.1445G>T
NM_000018.4:c.1386G>T MANE Select NP_000009.1:p.Glu462Asp
NM_001033859.3:c.1320G>T NP_001029031.1:p.Glu440Asp
NM_001270447.2:c.1455G>T NP_001257376.1:p.Glu485Asp
NM_001270448.2:c.1158G>T NP_001257377.1:p.Glu386Asp
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