Canonical Allele Identifier: CA397724666
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 2168257
ClinVar RCV Id: RCV003082469
MyVariant Identifiers: chr17:g.7127020G>A (hg19) chr17:g.7223701G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223701G>A , CM000679.2:g.7223701G>A GRCh38
NC_000017.10:g.7127020G>A , CM000679.1:g.7127020G>A GRCh37
NC_000017.9:g.7067744G>A NCBI36
NG_007975.1:g.8868G>A
NG_008391.2:g.1350C>T
NG_033038.1:g.15844C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1240G>A MANE Select ENSP00000349297.5:p.Glu414Lys
ENST00000322910.9:c.*1195G>A ENSP00000325395.5:n.*1195G>A
ENST00000350303.9:c.1174G>A ENSP00000344152.5:p.Glu392Lys
ENST00000356839.9:c.1240G>A ENSP00000349297.5:p.Glu414Lys
ENST00000542255.6:c.98G>A
ENST00000543245.6:c.1309G>A ENSP00000438689.2:p.Glu437Lys
ENST00000578579.2:n.411G>A
ENST00000578711.1:n.197G>A
ENST00000578824.5:n.656G>A
ENST00000579425.5:n.264G>A
ENST00000579546.1:c.77G>A
ENST00000583850.5:n.15G>A
ENST00000583858.5:c.269G>A
ENST00000585203.6:n.448G>A
NM_000018.3:c.1240G>A NP_000009.1:p.Glu414Lys
NM_001033859.2:c.1174G>A NP_001029031.1:p.Glu392Lys
NM_001270447.1:c.1309G>A NP_001257376.1:p.Glu437Lys
NM_001270448.1:c.1012G>A NP_001257377.1:p.Glu338Lys
XM_006721516.2:c.1240G>A XP_006721579.2:p.Glu414Lys
XM_011523829.1:c.1240G>A XP_011522131.1:p.Glu414Lys
XM_011523830.1:c.1240G>A XP_011522132.1:p.Glu414Lys
XR_934021.1:n.1347G>A
XR_934022.1:n.1347G>A
XR_934023.1:n.1347G>A
XM_006721516.3:c.1240G>A XP_006721579.2:p.Glu414Lys
XM_011523829.2:c.1240G>A XP_011522131.1:p.Glu414Lys
XM_011523830.2:c.1240G>A XP_011522132.1:p.Glu414Lys
XM_024450741.1:c.1240G>A XP_024306509.1:p.Glu414Lys
XR_934021.2:n.1299G>A
XR_934022.2:n.1299G>A
XR_934023.2:n.1299G>A
NM_000018.4:c.1240G>A MANE Select NP_000009.1:p.Glu414Lys
NM_001033859.3:c.1174G>A NP_001029031.1:p.Glu392Lys
NM_001270447.2:c.1309G>A NP_001257376.1:p.Glu437Lys
NM_001270448.2:c.1012G>A NP_001257377.1:p.Glu338Lys
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