Canonical Allele Identifier: CA497693965
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7221956-G-A
MyVariant Identifiers: chr17:g.7125275G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221956G>A , CM000679.2:g.7221956G>A GRCh38
NC_000017.10:g.7125275G>A , CM000679.1:g.7125275G>A GRCh37
NC_000017.9:g.7065999G>A NCBI36
NG_007975.1:g.7123G>A
NG_008391.2:g.3095C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.627G>A MANE Select ENSP00000349297.5:p.Glu209=
ENST00000322910.9:c.*582G>A ENSP00000325395.5:n.*582G>A
ENST00000350303.9:c.561G>A ENSP00000344152.5:p.Glu187=
ENST00000356839.9:c.627G>A ENSP00000349297.5:p.Glu209=
ENST00000543245.6:c.696G>A ENSP00000438689.2:p.Glu232=
ENST00000577191.5:n.704G>A
ENST00000577857.5:n.443G>A
ENST00000579286.5:n.808G>A
ENST00000579886.2:c.465G>A ENSP00000463246.1:p.Glu155=
ENST00000580365.1:n.358G>A
ENST00000581378.5:c.345G>A
ENST00000581562.5:n.529G>A
ENST00000582379.1:n.11G>A
ENST00000583312.5:c.642G>A ENSP00000467920.1:p.Glu214=
ENST00000583760.1:n.409G>A
NM_000018.3:c.627G>A NP_000009.1:p.Glu209=
NM_001033859.2:c.561G>A NP_001029031.1:p.Glu187=
NM_001270447.1:c.696G>A NP_001257376.1:p.Glu232=
NM_001270448.1:c.399G>A NP_001257377.1:p.Glu133=
XM_006721516.2:c.627G>A XP_006721579.2:p.Glu209=
XM_011523829.1:c.627G>A XP_011522131.1:p.Glu209=
XM_011523830.1:c.627G>A XP_011522132.1:p.Glu209=
XR_934021.1:n.734G>A
XR_934022.1:n.734G>A
XR_934023.1:n.734G>A
XM_006721516.3:c.627G>A XP_006721579.2:p.Glu209=
XM_011523829.2:c.627G>A XP_011522131.1:p.Glu209=
XM_011523830.2:c.627G>A XP_011522132.1:p.Glu209=
XM_024450741.1:c.627G>A XP_024306509.1:p.Glu209=
XR_934021.2:n.686G>A
XR_934022.2:n.686G>A
XR_934023.2:n.686G>A
NM_000018.4:c.627G>A MANE Select NP_000009.1:p.Glu209=
NM_001033859.3:c.561G>A NP_001029031.1:p.Glu187=
NM_001270447.2:c.696G>A NP_001257376.1:p.Glu232=
NM_001270448.2:c.399G>A NP_001257377.1:p.Glu133=
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