Canonical Allele Identifier: CA397725555
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7224519-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224519G>A , CM000679.2:g.7224519G>A GRCh38
NC_000017.10:g.7127838G>A , CM000679.1:g.7127838G>A GRCh37
NC_000017.9:g.7068562G>A NCBI36
NG_007975.1:g.9686G>A
NG_008391.2:g.532C>T
NG_033038.1:g.15026C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1645G>A MANE Select ENSP00000349297.5:p.Ala549Thr
ENST00000322910.9:c.*1600G>A ENSP00000325395.5:n.*1600G>A
ENST00000350303.9:c.1579G>A ENSP00000344152.5:p.Ala527Thr
ENST00000356839.9:c.1645G>A ENSP00000349297.5:p.Ala549Thr
ENST00000542255.6:c.503G>A
ENST00000543245.6:c.1714G>A ENSP00000438689.2:p.Ala572Thr
ENST00000578319.5:n.226G>A
ENST00000578711.1:n.1015G>A
ENST00000578809.5:n.217G>A
ENST00000579391.1:n.249G>A
ENST00000579425.5:n.761G>A
ENST00000579546.1:c.380G>A
ENST00000582450.1:n.153G>A
ENST00000583074.5:n.266G>A
ENST00000583848.5:c.31G>A ENSP00000466487.1:p.Ala11Thr
ENST00000583850.5:n.416G>A
ENST00000583858.5:c.576G>A
ENST00000585203.6:n.836G>A
NM_000018.3:c.1645G>A NP_000009.1:p.Ala549Thr
NM_001033859.2:c.1579G>A NP_001029031.1:p.Ala527Thr
NM_001270447.1:c.1714G>A NP_001257376.1:p.Ala572Thr
NM_001270448.1:c.1417G>A NP_001257377.1:p.Ala473Thr
XM_006721516.2:c.1645G>A XP_006721579.2:p.Ala549Thr
XM_011523829.1:c.1543G>A XP_011522131.1:p.Ala515Thr
XM_011523830.1:c.1543G>A XP_011522132.1:p.Ala515Thr
XR_934021.1:n.1748G>A
XR_934022.1:n.1654G>A
XR_934023.1:n.1654G>A
XM_006721516.3:c.1645G>A XP_006721579.2:p.Ala549Thr
XM_011523829.2:c.1543G>A XP_011522131.1:p.Ala515Thr
XM_011523830.2:c.1543G>A XP_011522132.1:p.Ala515Thr
XM_024450741.1:c.1633G>A XP_024306509.1:p.Ala545Thr
XR_934021.2:n.1700G>A
XR_934022.2:n.1606G>A
XR_934023.2:n.1606G>A
NM_000018.4:c.1645G>A MANE Select NP_000009.1:p.Ala549Thr
NM_001033859.3:c.1579G>A NP_001029031.1:p.Ala527Thr
NM_001270447.2:c.1714G>A NP_001257376.1:p.Ala572Thr
NM_001270448.2:c.1417G>A NP_001257377.1:p.Ala473Thr