Canonical Allele Identifier: CA497694055
Gene: ACADVL HGNC NCBI

Linked Data

COSMIC: COSM983825
MyVariant Identifiers: chr17:g.7125392T>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222073T>A , CM000679.2:g.7222073T>A GRCh38
NC_000017.10:g.7125392T>A , CM000679.1:g.7125392T>A GRCh37
NC_000017.9:g.7066116T>A NCBI36
NG_007975.1:g.7240T>A
NG_008391.2:g.2978A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.744T>A MANE Select ENSP00000349297.5:p.Leu248=
ENST00000322910.9:c.*699T>A ENSP00000325395.5:n.*699T>A
ENST00000350303.9:c.678T>A ENSP00000344152.5:p.Leu226=
ENST00000356839.9:c.744T>A ENSP00000349297.5:p.Leu248=
ENST00000543245.6:c.813T>A ENSP00000438689.2:p.Leu271=
ENST00000577191.5:n.821T>A
ENST00000577857.5:n.560T>A
ENST00000579286.5:n.925T>A
ENST00000580365.1:n.475T>A
ENST00000581378.5:c.462T>A
ENST00000582379.1:n.128T>A
ENST00000583760.1:n.526T>A
NM_000018.3:c.744T>A NP_000009.1:p.Leu248=
NM_001033859.2:c.678T>A NP_001029031.1:p.Leu226=
NM_001270447.1:c.813T>A NP_001257376.1:p.Leu271=
NM_001270448.1:c.516T>A NP_001257377.1:p.Leu172=
XM_006721516.2:c.744T>A XP_006721579.2:p.Leu248=
XM_011523829.1:c.744T>A XP_011522131.1:p.Leu248=
XM_011523830.1:c.744T>A XP_011522132.1:p.Leu248=
XR_934021.1:n.851T>A
XR_934022.1:n.851T>A
XR_934023.1:n.851T>A
XM_006721516.3:c.744T>A XP_006721579.2:p.Leu248=
XM_011523829.2:c.744T>A XP_011522131.1:p.Leu248=
XM_011523830.2:c.744T>A XP_011522132.1:p.Leu248=
XM_024450741.1:c.744T>A XP_024306509.1:p.Leu248=
XR_934021.2:n.803T>A
XR_934022.2:n.803T>A
XR_934023.2:n.803T>A
NM_000018.4:c.744T>A MANE Select NP_000009.1:p.Leu248=
NM_001033859.3:c.678T>A NP_001029031.1:p.Leu226=
NM_001270447.2:c.813T>A NP_001257376.1:p.Leu271=
NM_001270448.2:c.516T>A NP_001257377.1:p.Leu172=
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