Canonical Allele Identifier: CA497694044
Gene: ACADVL HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.7125365A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222046A>G , CM000679.2:g.7222046A>G GRCh38
NC_000017.10:g.7125365A>G , CM000679.1:g.7125365A>G GRCh37
NC_000017.9:g.7066089A>G NCBI36
NG_007975.1:g.7213A>G
NG_008391.2:g.3005T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.717A>G MANE Select ENSP00000349297.5:p.Lys239=
ENST00000322910.9:c.*672A>G ENSP00000325395.5:n.*672A>G
ENST00000350303.9:c.651A>G ENSP00000344152.5:p.Lys217=
ENST00000356839.9:c.717A>G ENSP00000349297.5:p.Lys239=
ENST00000543245.6:c.786A>G ENSP00000438689.2:p.Lys262=
ENST00000577191.5:n.794A>G
ENST00000577857.5:n.533A>G
ENST00000579286.5:n.898A>G
ENST00000580365.1:n.448A>G
ENST00000581378.5:c.435A>G
ENST00000582379.1:n.101A>G
ENST00000583760.1:n.499A>G
NM_000018.3:c.717A>G NP_000009.1:p.Lys239=
NM_001033859.2:c.651A>G NP_001029031.1:p.Lys217=
NM_001270447.1:c.786A>G NP_001257376.1:p.Lys262=
NM_001270448.1:c.489A>G NP_001257377.1:p.Lys163=
XM_006721516.2:c.717A>G XP_006721579.2:p.Lys239=
XM_011523829.1:c.717A>G XP_011522131.1:p.Lys239=
XM_011523830.1:c.717A>G XP_011522132.1:p.Lys239=
XR_934021.1:n.824A>G
XR_934022.1:n.824A>G
XR_934023.1:n.824A>G
XM_006721516.3:c.717A>G XP_006721579.2:p.Lys239=
XM_011523829.2:c.717A>G XP_011522131.1:p.Lys239=
XM_011523830.2:c.717A>G XP_011522132.1:p.Lys239=
XM_024450741.1:c.717A>G XP_024306509.1:p.Lys239=
XR_934021.2:n.776A>G
XR_934022.2:n.776A>G
XR_934023.2:n.776A>G
NM_000018.4:c.717A>G MANE Select NP_000009.1:p.Lys239=
NM_001033859.3:c.651A>G NP_001029031.1:p.Lys217=
NM_001270447.2:c.786A>G NP_001257376.1:p.Lys262=
NM_001270448.2:c.489A>G NP_001257377.1:p.Lys163=
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