Canonical Allele Identifier: CA497620166
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7125995T>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222676T>A , CM000679.2:g.7222676T>A GRCh38
NC_000017.10:g.7125995T>A , CM000679.1:g.7125995T>A GRCh37
NC_000017.9:g.7066719T>A NCBI36
NG_007975.1:g.7843T>A
NG_008391.2:g.2375A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.888T>A MANE Select ENSP00000349297.5:p.Pro296=
ENST00000322910.9:c.*843T>A ENSP00000325395.5:n.*843T>A
ENST00000350303.9:c.822T>A ENSP00000344152.5:p.Pro274=
ENST00000356839.9:c.888T>A ENSP00000349297.5:p.Pro296=
ENST00000543245.6:c.957T>A ENSP00000438689.2:p.Pro319=
ENST00000578824.5:n.37T>A
ENST00000581378.5:c.606T>A
ENST00000582379.1:n.272T>A
NM_000018.3:c.888T>A NP_000009.1:p.Pro296=
NM_001033859.2:c.822T>A NP_001029031.1:p.Pro274=
NM_001270447.1:c.957T>A NP_001257376.1:p.Pro319=
NM_001270448.1:c.660T>A NP_001257377.1:p.Pro220=
XM_006721516.2:c.888T>A XP_006721579.2:p.Pro296=
XM_011523829.1:c.888T>A XP_011522131.1:p.Pro296=
XM_011523830.1:c.888T>A XP_011522132.1:p.Pro296=
XR_934021.1:n.995T>A
XR_934022.1:n.995T>A
XR_934023.1:n.995T>A
XM_006721516.3:c.888T>A XP_006721579.2:p.Pro296=
XM_011523829.2:c.888T>A XP_011522131.1:p.Pro296=
XM_011523830.2:c.888T>A XP_011522132.1:p.Pro296=
XM_024450741.1:c.888T>A XP_024306509.1:p.Pro296=
XR_934021.2:n.947T>A
XR_934022.2:n.947T>A
XR_934023.2:n.947T>A
NM_000018.4:c.888T>A MANE Select NP_000009.1:p.Pro296=
NM_001033859.3:c.822T>A NP_001029031.1:p.Pro274=
NM_001270447.2:c.957T>A NP_001257376.1:p.Pro319=
NM_001270448.2:c.660T>A NP_001257377.1:p.Pro220=
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