Canonical Allele Identifier: CA2697557230
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 2754664
ClinVar RCV Id: RCV003498438
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222647C>T , CM000679.2:g.7222647C>T GRCh38
NC_000017.10:g.7125966C>T , CM000679.1:g.7125966C>T GRCh37
NC_000017.9:g.7066690C>T NCBI36
NG_007975.1:g.7814C>T
NG_008391.2:g.2404G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.879-20C>T MANE Select ENSP00000349297.5:n.879-20C>T
ENST00000322910.9:c.*834-20C>T ENSP00000325395.5:n.*834-20C>T
ENST00000350303.9:c.813-20C>T ENSP00000344152.5:n.813-20C>T
ENST00000356839.9:c.879-20C>T ENSP00000349297.5:n.879-20C>T
ENST00000543245.6:c.948-20C>T ENSP00000438689.2:n.948-20C>T
ENST00000578824.5:n.8C>T
ENST00000581378.5:c.597-20C>T
ENST00000582379.1:n.263-20C>T
NM_000018.3:c.879-20C>T NP_000009.1:n.879-20C>T
NM_001033859.2:c.813-20C>T NP_001029031.1:n.813-20C>T
NM_001270447.1:c.948-20C>T NP_001257376.1:n.948-20C>T
NM_001270448.1:c.651-20C>T NP_001257377.1:n.651-20C>T
XM_006721516.2:c.879-20C>T XP_006721579.2:n.879-20C>T
XM_011523829.1:c.879-20C>T XP_011522131.1:n.879-20C>T
XM_011523830.1:c.879-20C>T XP_011522132.1:n.879-20C>T
XR_934021.1:n.986-20C>T
XR_934022.1:n.986-20C>T
XR_934023.1:n.986-20C>T
XM_006721516.3:c.879-20C>T XP_006721579.2:n.879-20C>T
XM_011523829.2:c.879-20C>T XP_011522131.1:n.879-20C>T
XM_011523830.2:c.879-20C>T XP_011522132.1:n.879-20C>T
XM_024450741.1:c.879-20C>T XP_024306509.1:n.879-20C>T
XR_934021.2:n.938-20C>T
XR_934022.2:n.938-20C>T
XR_934023.2:n.938-20C>T
NM_000018.4:c.879-20C>T MANE Select NP_000009.1:n.879-20C>T
NM_001033859.3:c.813-20C>T NP_001029031.1:n.813-20C>T
NM_001270447.2:c.948-20C>T NP_001257376.1:n.948-20C>T
NM_001270448.2:c.651-20C>T NP_001257377.1:n.651-20C>T
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