Canonical Allele Identifier: CA624860833
Gene: ACADVL HGNC NCBI

Linked Data

dbSNP Id: rs1324290679
gnomAD v2: 17-7128093-G-A
gnomAD v4: 17-7224774-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224774G>A , CM000679.2:g.7224774G>A GRCh38
NC_000017.10:g.7128093G>A , CM000679.1:g.7128093G>A GRCh37
NC_000017.9:g.7068817G>A NCBI36
NG_007975.1:g.9941G>A
NG_008391.2:g.277C>T
NG_033038.1:g.14771C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1752-35G>A MANE Select ENSP00000349297.5:n.1752-35G>A
ENST00000322910.9:c.*1707-35G>A ENSP00000325395.5:n.*1707-35G>A
ENST00000350303.9:c.1686-35G>A ENSP00000344152.5:n.1686-35G>A
ENST00000356839.9:c.1752-35G>A ENSP00000349297.5:n.1752-35G>A
ENST00000542255.6:c.596G>A
ENST00000543245.6:c.1821-35G>A ENSP00000438689.2:n.1821-35G>A
ENST00000578033.1:n.142G>A
ENST00000578319.5:n.333-35G>A
ENST00000578711.1:n.1270G>A
ENST00000578809.5:n.324-35G>A
ENST00000579425.5:n.868-35G>A
ENST00000579546.1:c.487-35G>A
ENST00000583074.5:n.359G>A
ENST00000583848.5:c.118-35G>A ENSP00000466487.1:n.118-35G>A
ENST00000583850.5:n.523-35G>A
ENST00000583858.5:c.683-35G>A
ENST00000585203.6:n.943-35G>A
NM_000018.3:c.1752-35G>A NP_000009.1:n.1752-35G>A
NM_001033859.2:c.1686-35G>A NP_001029031.1:n.1686-35G>A
NM_001270447.1:c.1821-35G>A NP_001257376.1:n.1821-35G>A
NM_001270448.1:c.1524-35G>A NP_001257377.1:n.1524-35G>A
XM_006721516.2:c.1738G>A XP_006721579.2:p.Ala580Thr
XM_011523829.1:c.1636G>A XP_011522131.1:p.Ala546Thr
XM_011523830.1:c.1650-35G>A XP_011522132.1:n.1650-35G>A
XR_934021.1:n.1855-35G>A
XR_934022.1:n.1761-35G>A
XR_934023.1:n.1747G>A
XM_006721516.3:c.1738G>A XP_006721579.2:p.Ala580Thr
XM_011523829.2:c.1636G>A XP_011522131.1:p.Ala546Thr
XM_011523830.2:c.1650-35G>A XP_011522132.1:n.1650-35G>A
XM_024450741.1:c.1740-35G>A XP_024306509.1:n.1740-35G>A
XR_934021.2:n.1807-35G>A
XR_934022.2:n.1713-35G>A
XR_934023.2:n.1699G>A
NM_000018.4:c.1752-35G>A MANE Select NP_000009.1:n.1752-35G>A
NM_001033859.3:c.1686-35G>A NP_001029031.1:n.1686-35G>A
NM_001270447.2:c.1821-35G>A NP_001257376.1:n.1821-35G>A
NM_001270448.2:c.1524-35G>A NP_001257377.1:n.1524-35G>A