Canonical Allele Identifier: CA497694089
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7126989C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223670C>T , CM000679.2:g.7223670C>T GRCh38
NC_000017.10:g.7126989C>T , CM000679.1:g.7126989C>T GRCh37
NC_000017.9:g.7067713C>T NCBI36
NG_007975.1:g.8837C>T
NG_008391.2:g.1381G>A
NG_033038.1:g.15875G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1209C>T MANE Select ENSP00000349297.5:p.Asn403=
ENST00000322910.9:c.*1164C>T ENSP00000325395.5:n.*1164C>T
ENST00000350303.9:c.1143C>T ENSP00000344152.5:p.Asn381=
ENST00000356839.9:c.1209C>T ENSP00000349297.5:p.Asn403=
ENST00000542255.6:c.67C>T
ENST00000543245.6:c.1278C>T ENSP00000438689.2:p.Asn426=
ENST00000578579.2:n.380C>T
ENST00000578711.1:n.166C>T
ENST00000578824.5:n.625C>T
ENST00000579425.5:n.233C>T
ENST00000579546.1:c.46C>T
ENST00000583858.5:c.238C>T
ENST00000585203.6:n.417C>T
NM_000018.3:c.1209C>T NP_000009.1:p.Asn403=
NM_001033859.2:c.1143C>T NP_001029031.1:p.Asn381=
NM_001270447.1:c.1278C>T NP_001257376.1:p.Asn426=
NM_001270448.1:c.981C>T NP_001257377.1:p.Asn327=
XM_006721516.2:c.1209C>T XP_006721579.2:p.Asn403=
XM_011523829.1:c.1209C>T XP_011522131.1:p.Asn403=
XM_011523830.1:c.1209C>T XP_011522132.1:p.Asn403=
XR_934021.1:n.1316C>T
XR_934022.1:n.1316C>T
XR_934023.1:n.1316C>T
XM_006721516.3:c.1209C>T XP_006721579.2:p.Asn403=
XM_011523829.2:c.1209C>T XP_011522131.1:p.Asn403=
XM_011523830.2:c.1209C>T XP_011522132.1:p.Asn403=
XM_024450741.1:c.1209C>T XP_024306509.1:p.Asn403=
XR_934021.2:n.1268C>T
XR_934022.2:n.1268C>T
XR_934023.2:n.1268C>T
NM_000018.4:c.1209C>T MANE Select NP_000009.1:p.Asn403=
NM_001033859.3:c.1143C>T NP_001029031.1:p.Asn381=
NM_001270447.2:c.1278C>T NP_001257376.1:p.Asn426=
NM_001270448.2:c.981C>T NP_001257377.1:p.Asn327=
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