Canonical Allele Identifier: CA397723975
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7126027C>T (hg19) chr17:g.7222708C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222708C>T , CM000679.2:g.7222708C>T GRCh38
NC_000017.10:g.7126027C>T , CM000679.1:g.7126027C>T GRCh37
NC_000017.9:g.7066751C>T NCBI36
NG_007975.1:g.7875C>T
NG_008391.2:g.2343G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.920C>T MANE Select ENSP00000349297.5:p.Thr307Ile
ENST00000322910.9:c.*875C>T ENSP00000325395.5:n.*875C>T
ENST00000350303.9:c.854C>T ENSP00000344152.5:p.Thr285Ile
ENST00000356839.9:c.920C>T ENSP00000349297.5:p.Thr307Ile
ENST00000543245.6:c.989C>T ENSP00000438689.2:p.Thr330Ile
ENST00000578824.5:n.69C>T
ENST00000581378.5:c.638C>T
ENST00000582379.1:n.304C>T
NM_000018.3:c.920C>T NP_000009.1:p.Thr307Ile
NM_001033859.2:c.854C>T NP_001029031.1:p.Thr285Ile
NM_001270447.1:c.989C>T NP_001257376.1:p.Thr330Ile
NM_001270448.1:c.692C>T NP_001257377.1:p.Thr231Ile
XM_006721516.2:c.920C>T XP_006721579.2:p.Thr307Ile
XM_011523829.1:c.920C>T XP_011522131.1:p.Thr307Ile
XM_011523830.1:c.920C>T XP_011522132.1:p.Thr307Ile
XR_934021.1:n.1027C>T
XR_934022.1:n.1027C>T
XR_934023.1:n.1027C>T
XM_006721516.3:c.920C>T XP_006721579.2:p.Thr307Ile
XM_011523829.2:c.920C>T XP_011522131.1:p.Thr307Ile
XM_011523830.2:c.920C>T XP_011522132.1:p.Thr307Ile
XM_024450741.1:c.920C>T XP_024306509.1:p.Thr307Ile
XR_934021.2:n.979C>T
XR_934022.2:n.979C>T
XR_934023.2:n.979C>T
NM_000018.4:c.920C>T MANE Select NP_000009.1:p.Thr307Ile
NM_001033859.3:c.854C>T NP_001029031.1:p.Thr285Ile
NM_001270447.2:c.989C>T NP_001257376.1:p.Thr330Ile
NM_001270448.2:c.692C>T NP_001257377.1:p.Thr231Ile
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