Canonical Allele Identifier: CA8338135
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 2051701
ClinVar RCV Id: RCV002927454
dbSNP Id: rs376795010
ExAC: 17:7127540 G / A
gnomAD v2: 17-7127540-G-A
gnomAD v4: 17-7224221-G-A
MyVariant Identifiers: chr17:g.7127540G>A (hg19) chr17:g.7224221G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224221G>A , CM000679.2:g.7224221G>A GRCh38
NC_000017.10:g.7127540G>A , CM000679.1:g.7127540G>A GRCh37
NC_000017.9:g.7068264G>A NCBI36
NG_007975.1:g.9388G>A
NG_008391.2:g.830C>T
NG_033038.1:g.15324C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1510G>A MANE Select ENSP00000349297.5:p.Glu504Lys
ENST00000322910.9:c.*1465G>A ENSP00000325395.5:n.*1465G>A
ENST00000350303.9:c.1444G>A ENSP00000344152.5:p.Glu482Lys
ENST00000356839.9:c.1510G>A ENSP00000349297.5:p.Glu504Lys
ENST00000542255.6:c.368G>A
ENST00000543245.6:c.1579G>A ENSP00000438689.2:p.Glu527Lys
ENST00000578319.5:n.5G>A
ENST00000578711.1:n.717G>A
ENST00000578809.5:n.5G>A
ENST00000579391.1:n.118G>A
ENST00000579425.5:n.626G>A
ENST00000579546.1:c.272-100G>A
ENST00000579894.5:n.297G>A
ENST00000583074.5:n.154-100G>A
ENST00000583850.5:n.285G>A
ENST00000583858.5:c.464-100G>A
ENST00000585203.6:n.701G>A
NM_000018.3:c.1510G>A NP_000009.1:p.Glu504Lys
NM_001033859.2:c.1444G>A NP_001029031.1:p.Glu482Lys
NM_001270447.1:c.1579G>A NP_001257376.1:p.Glu527Lys
NM_001270448.1:c.1282G>A NP_001257377.1:p.Glu428Lys
XM_006721516.2:c.1510G>A XP_006721579.2:p.Glu504Lys
XM_011523829.1:c.1435-100G>A XP_011522131.1:n.1435-100G>A
XM_011523830.1:c.1435-100G>A XP_011522132.1:n.1435-100G>A
XR_934021.1:n.1617G>A
XR_934022.1:n.1542-100G>A
XR_934023.1:n.1542-100G>A
XM_006721516.3:c.1510G>A XP_006721579.2:p.Glu504Lys
XM_011523829.2:c.1435-100G>A XP_011522131.1:n.1435-100G>A
XM_011523830.2:c.1435-100G>A XP_011522132.1:n.1435-100G>A
XM_024450741.1:c.1435-100G>A XP_024306509.1:n.1435-100G>A
XR_934021.2:n.1569G>A
XR_934022.2:n.1494-100G>A
XR_934023.2:n.1494-100G>A
NM_000018.4:c.1510G>A MANE Select NP_000009.1:p.Glu504Lys
NM_001033859.3:c.1444G>A NP_001029031.1:p.Glu482Lys
NM_001270447.2:c.1579G>A NP_001257376.1:p.Glu527Lys
NM_001270448.2:c.1282G>A NP_001257377.1:p.Glu428Lys
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