Canonical Allele Identifier: CA8338127
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 1582944
ClinVar RCV Id: RCV002091283
dbSNP Id: rs764757180
ExAC: 17:7127506 G / A
gnomAD v2: 17-7127506-G-A
gnomAD v4: 17-7224187-G-A
MyVariant Identifiers: chr17:g.7127506G>A (hg19) chr17:g.7224187G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224187G>A , CM000679.2:g.7224187G>A GRCh38
NC_000017.10:g.7127506G>A , CM000679.1:g.7127506G>A GRCh37
NC_000017.9:g.7068230G>A NCBI36
NG_007975.1:g.9354G>A
NG_008391.2:g.864C>T
NG_033038.1:g.15358C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1476G>A MANE Select ENSP00000349297.5:p.Lys492=
ENST00000322910.9:c.*1431G>A ENSP00000325395.5:n.*1431G>A
ENST00000350303.9:c.1410G>A ENSP00000344152.5:p.Lys470=
ENST00000356839.9:c.1476G>A ENSP00000349297.5:p.Lys492=
ENST00000542255.6:c.334G>A
ENST00000543245.6:c.1545G>A ENSP00000438689.2:p.Lys515=
ENST00000578711.1:n.683G>A
ENST00000579391.1:n.84G>A
ENST00000579425.5:n.592G>A
ENST00000579546.1:c.271+118G>A
ENST00000579894.5:n.263G>A
ENST00000583074.5:n.153+118G>A
ENST00000583850.5:n.251G>A
ENST00000583858.5:c.463+118G>A
ENST00000585203.6:n.667G>A
NM_000018.3:c.1476G>A NP_000009.1:p.Lys492=
NM_001033859.2:c.1410G>A NP_001029031.1:p.Lys470=
NM_001270447.1:c.1545G>A NP_001257376.1:p.Lys515=
NM_001270448.1:c.1248G>A NP_001257377.1:p.Lys416=
XM_006721516.2:c.1476G>A XP_006721579.2:p.Lys492=
XM_011523829.1:c.1434+118G>A XP_011522131.1:n.1434+118G>A
XM_011523830.1:c.1434+118G>A XP_011522132.1:n.1434+118G>A
XR_934021.1:n.1583G>A
XR_934022.1:n.1541+118G>A
XR_934023.1:n.1541+118G>A
XM_006721516.3:c.1476G>A XP_006721579.2:p.Lys492=
XM_011523829.2:c.1434+118G>A XP_011522131.1:n.1434+118G>A
XM_011523830.2:c.1434+118G>A XP_011522132.1:n.1434+118G>A
XM_024450741.1:c.1434+118G>A XP_024306509.1:n.1434+118G>A
XR_934021.2:n.1535G>A
XR_934022.2:n.1493+118G>A
XR_934023.2:n.1493+118G>A
NM_000018.4:c.1476G>A MANE Select NP_000009.1:p.Lys492=
NM_001033859.3:c.1410G>A NP_001029031.1:p.Lys470=
NM_001270447.2:c.1545G>A NP_001257376.1:p.Lys515=
NM_001270448.2:c.1248G>A NP_001257377.1:p.Lys416=
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