Canonical Allele Identifier: CA397723586
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7125393T>A (hg19) chr17:g.7222074T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222074T>A , CM000679.2:g.7222074T>A GRCh38
NC_000017.10:g.7125393T>A , CM000679.1:g.7125393T>A GRCh37
NC_000017.9:g.7066117T>A NCBI36
NG_007975.1:g.7241T>A
NG_008391.2:g.2977A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.745T>A MANE Select ENSP00000349297.5:p.Trp249Arg
ENST00000322910.9:c.*700T>A ENSP00000325395.5:n.*700T>A
ENST00000350303.9:c.679T>A ENSP00000344152.5:p.Trp227Arg
ENST00000356839.9:c.745T>A ENSP00000349297.5:p.Trp249Arg
ENST00000543245.6:c.814T>A ENSP00000438689.2:p.Trp272Arg
ENST00000577191.5:n.822T>A
ENST00000577857.5:n.561T>A
ENST00000579286.5:n.926T>A
ENST00000580365.1:n.476T>A
ENST00000581378.5:c.463T>A
ENST00000582379.1:n.129T>A
ENST00000583760.1:n.527T>A
NM_000018.3:c.745T>A NP_000009.1:p.Trp249Arg
NM_001033859.2:c.679T>A NP_001029031.1:p.Trp227Arg
NM_001270447.1:c.814T>A NP_001257376.1:p.Trp272Arg
NM_001270448.1:c.517T>A NP_001257377.1:p.Trp173Arg
XM_006721516.2:c.745T>A XP_006721579.2:p.Trp249Arg
XM_011523829.1:c.745T>A XP_011522131.1:p.Trp249Arg
XM_011523830.1:c.745T>A XP_011522132.1:p.Trp249Arg
XR_934021.1:n.852T>A
XR_934022.1:n.852T>A
XR_934023.1:n.852T>A
XM_006721516.3:c.745T>A XP_006721579.2:p.Trp249Arg
XM_011523829.2:c.745T>A XP_011522131.1:p.Trp249Arg
XM_011523830.2:c.745T>A XP_011522132.1:p.Trp249Arg
XM_024450741.1:c.745T>A XP_024306509.1:p.Trp249Arg
XR_934021.2:n.804T>A
XR_934022.2:n.804T>A
XR_934023.2:n.804T>A
NM_000018.4:c.745T>A MANE Select NP_000009.1:p.Trp249Arg
NM_001033859.3:c.679T>A NP_001029031.1:p.Trp227Arg
NM_001270447.2:c.814T>A NP_001257376.1:p.Trp272Arg
NM_001270448.2:c.517T>A NP_001257377.1:p.Trp173Arg
Search 100 bp 5'
Search 100 bp 3'