Canonical Allele Identifier: CA397723624
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 439353
ClinVar RCV Id: RCV000508149
dbSNP Id: rs143233413
MyVariant Identifiers: chr17:g.7125499T>A (hg19) chr17:g.7222180T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222180T>A , CM000679.2:g.7222180T>A GRCh38
NC_000017.10:g.7125499T>A , CM000679.1:g.7125499T>A GRCh37
NC_000017.9:g.7066223T>A NCBI36
NG_007975.1:g.7347T>A
NG_008391.2:g.2871A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.756T>A MANE Select ENSP00000349297.5:p.Asn252Lys
ENST00000322910.9:c.*711T>A ENSP00000325395.5:n.*711T>A
ENST00000350303.9:c.690T>A ENSP00000344152.5:p.Asn230Lys
ENST00000356839.9:c.756T>A ENSP00000349297.5:p.Asn252Lys
ENST00000543245.6:c.825T>A ENSP00000438689.2:p.Asn275Lys
ENST00000577191.5:n.928T>A
ENST00000581378.5:c.474T>A
ENST00000582379.1:n.140T>A
NM_000018.3:c.756T>A NP_000009.1:p.Asn252Lys
NM_001033859.2:c.690T>A NP_001029031.1:p.Asn230Lys
NM_001270447.1:c.825T>A NP_001257376.1:p.Asn275Lys
NM_001270448.1:c.528T>A NP_001257377.1:p.Asn176Lys
XM_006721516.2:c.756T>A XP_006721579.2:p.Asn252Lys
XM_011523829.1:c.756T>A XP_011522131.1:p.Asn252Lys
XM_011523830.1:c.756T>A XP_011522132.1:p.Asn252Lys
XR_934021.1:n.863T>A
XR_934022.1:n.863T>A
XR_934023.1:n.863T>A
XM_006721516.3:c.756T>A XP_006721579.2:p.Asn252Lys
XM_011523829.2:c.756T>A XP_011522131.1:p.Asn252Lys
XM_011523830.2:c.756T>A XP_011522132.1:p.Asn252Lys
XM_024450741.1:c.756T>A XP_024306509.1:p.Asn252Lys
XR_934021.2:n.815T>A
XR_934022.2:n.815T>A
XR_934023.2:n.815T>A
NM_000018.4:c.756T>A MANE Select NP_000009.1:p.Asn252Lys
NM_001033859.3:c.690T>A NP_001029031.1:p.Asn230Lys
NM_001270447.2:c.825T>A NP_001257376.1:p.Asn275Lys
NM_001270448.2:c.528T>A NP_001257377.1:p.Asn176Lys
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