Canonical Allele Identifier: CA497619959
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7222255-G-A
MyVariant Identifiers: chr17:g.7125574G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222255G>A , CM000679.2:g.7222255G>A GRCh38
NC_000017.10:g.7125574G>A , CM000679.1:g.7125574G>A GRCh37
NC_000017.9:g.7066298G>A NCBI36
NG_007975.1:g.7422G>A
NG_008391.2:g.2796C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.831G>A MANE Select ENSP00000349297.5:p.Glu277=
ENST00000322910.9:c.*786G>A ENSP00000325395.5:n.*786G>A
ENST00000350303.9:c.765G>A ENSP00000344152.5:p.Glu255=
ENST00000356839.9:c.831G>A ENSP00000349297.5:p.Glu277=
ENST00000543245.6:c.900G>A ENSP00000438689.2:p.Glu300=
ENST00000577191.5:n.1003G>A
ENST00000581378.5:c.549G>A
ENST00000582379.1:n.215G>A
NM_000018.3:c.831G>A NP_000009.1:p.Glu277=
NM_001033859.2:c.765G>A NP_001029031.1:p.Glu255=
NM_001270447.1:c.900G>A NP_001257376.1:p.Glu300=
NM_001270448.1:c.603G>A NP_001257377.1:p.Glu201=
XM_006721516.2:c.831G>A XP_006721579.2:p.Glu277=
XM_011523829.1:c.831G>A XP_011522131.1:p.Glu277=
XM_011523830.1:c.831G>A XP_011522132.1:p.Glu277=
XR_934021.1:n.938G>A
XR_934022.1:n.938G>A
XR_934023.1:n.938G>A
XM_006721516.3:c.831G>A XP_006721579.2:p.Glu277=
XM_011523829.2:c.831G>A XP_011522131.1:p.Glu277=
XM_011523830.2:c.831G>A XP_011522132.1:p.Glu277=
XM_024450741.1:c.831G>A XP_024306509.1:p.Glu277=
XR_934021.2:n.890G>A
XR_934022.2:n.890G>A
XR_934023.2:n.890G>A
NM_000018.4:c.831G>A MANE Select NP_000009.1:p.Glu277=
NM_001033859.3:c.765G>A NP_001029031.1:p.Glu255=
NM_001270447.2:c.900G>A NP_001257376.1:p.Glu300=
NM_001270448.2:c.603G>A NP_001257377.1:p.Glu201=
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