Canonical Allele Identifier: CA397723593
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7125395G>T (hg19) chr17:g.7222076G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222076G>T , CM000679.2:g.7222076G>T GRCh38
NC_000017.10:g.7125395G>T , CM000679.1:g.7125395G>T GRCh37
NC_000017.9:g.7066119G>T NCBI36
NG_007975.1:g.7243G>T
NG_008391.2:g.2975C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.747G>T MANE Select ENSP00000349297.5:p.Trp249Cys
ENST00000322910.9:c.*702G>T ENSP00000325395.5:n.*702G>T
ENST00000350303.9:c.681G>T ENSP00000344152.5:p.Trp227Cys
ENST00000356839.9:c.747G>T ENSP00000349297.5:p.Trp249Cys
ENST00000543245.6:c.816G>T ENSP00000438689.2:p.Trp272Cys
ENST00000577191.5:n.824G>T
ENST00000577857.5:n.563G>T
ENST00000579286.5:n.928G>T
ENST00000580365.1:n.478G>T
ENST00000581378.5:c.465G>T
ENST00000582379.1:n.131G>T
ENST00000583760.1:n.529G>T
NM_000018.3:c.747G>T NP_000009.1:p.Trp249Cys
NM_001033859.2:c.681G>T NP_001029031.1:p.Trp227Cys
NM_001270447.1:c.816G>T NP_001257376.1:p.Trp272Cys
NM_001270448.1:c.519G>T NP_001257377.1:p.Trp173Cys
XM_006721516.2:c.747G>T XP_006721579.2:p.Trp249Cys
XM_011523829.1:c.747G>T XP_011522131.1:p.Trp249Cys
XM_011523830.1:c.747G>T XP_011522132.1:p.Trp249Cys
XR_934021.1:n.854G>T
XR_934022.1:n.854G>T
XR_934023.1:n.854G>T
XM_006721516.3:c.747G>T XP_006721579.2:p.Trp249Cys
XM_011523829.2:c.747G>T XP_011522131.1:p.Trp249Cys
XM_011523830.2:c.747G>T XP_011522132.1:p.Trp249Cys
XM_024450741.1:c.747G>T XP_024306509.1:p.Trp249Cys
XR_934021.2:n.806G>T
XR_934022.2:n.806G>T
XR_934023.2:n.806G>T
NM_000018.4:c.747G>T MANE Select NP_000009.1:p.Trp249Cys
NM_001033859.3:c.681G>T NP_001029031.1:p.Trp227Cys
NM_001270447.2:c.816G>T NP_001257376.1:p.Trp272Cys
NM_001270448.2:c.519G>T NP_001257377.1:p.Trp173Cys
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