Canonical Allele Identifier: CA397725421
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7224370-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224370G>T , CM000679.2:g.7224370G>T GRCh38
NC_000017.10:g.7127689G>T , CM000679.1:g.7127689G>T GRCh37
NC_000017.9:g.7068413G>T NCBI36
NG_007975.1:g.9537G>T
NG_008391.2:g.681C>A
NG_033038.1:g.15175C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1582G>T MANE Select ENSP00000349297.5:p.Glu528Ter
ENST00000322910.9:c.*1537G>T ENSP00000325395.5:n.*1537G>T
ENST00000350303.9:c.1516G>T ENSP00000344152.5:p.Glu506Ter
ENST00000356839.9:c.1582G>T ENSP00000349297.5:p.Glu528Ter
ENST00000542255.6:c.440G>T
ENST00000543245.6:c.1651G>T ENSP00000438689.2:p.Glu551Ter
ENST00000578319.5:n.77G>T
ENST00000578711.1:n.866G>T
ENST00000578809.5:n.154G>T
ENST00000579391.1:n.190G>T
ENST00000579425.5:n.698G>T
ENST00000579546.1:c.321G>T
ENST00000579894.5:n.369G>T
ENST00000582450.1:n.90G>T
ENST00000583074.5:n.203G>T
ENST00000583850.5:n.357G>T
ENST00000583858.5:c.513G>T
ENST00000585203.6:n.773G>T
NM_000018.3:c.1582G>T NP_000009.1:p.Glu528Ter
NM_001033859.2:c.1516G>T NP_001029031.1:p.Glu506Ter
NM_001270447.1:c.1651G>T NP_001257376.1:p.Glu551Ter
NM_001270448.1:c.1354G>T NP_001257377.1:p.Glu452Ter
XM_006721516.2:c.1582G>T XP_006721579.2:p.Glu528Ter
XM_011523829.1:c.1484G>T XP_011522131.1:p.Gly495Val
XM_011523830.1:c.1484G>T XP_011522132.1:p.Gly495Val
XR_934021.1:n.1689G>T
XR_934022.1:n.1591G>T
XR_934023.1:n.1591G>T
XM_006721516.3:c.1582G>T XP_006721579.2:p.Glu528Ter
XM_011523829.2:c.1484G>T XP_011522131.1:p.Gly495Val
XM_011523830.2:c.1484G>T XP_011522132.1:p.Gly495Val
XM_024450741.1:c.1484G>T XP_024306509.1:p.Gly495Val
XR_934021.2:n.1641G>T
XR_934022.2:n.1543G>T
XR_934023.2:n.1543G>T
NM_000018.4:c.1582G>T MANE Select NP_000009.1:p.Glu528Ter
NM_001033859.3:c.1516G>T NP_001029031.1:p.Glu506Ter
NM_001270447.2:c.1651G>T NP_001257376.1:p.Glu551Ter
NM_001270448.2:c.1354G>T NP_001257377.1:p.Glu452Ter