Canonical Allele Identifier: CA397725647
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7224644-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224644G>A , CM000679.2:g.7224644G>A GRCh38
NC_000017.10:g.7127963G>A , CM000679.1:g.7127963G>A GRCh37
NC_000017.9:g.7068687G>A NCBI36
NG_007975.1:g.9811G>A
NG_008391.2:g.407C>T
NG_033038.1:g.14901C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.1681G>A MANE Select ENSP00000349297.5:p.Glu561Lys
ENST00000322910.9:c.*1636G>A ENSP00000325395.5:n.*1636G>A
ENST00000350303.9:c.1615G>A ENSP00000344152.5:p.Glu539Lys
ENST00000356839.9:c.1681G>A ENSP00000349297.5:p.Glu561Lys
ENST00000542255.6:c.537-71G>A
ENST00000543245.6:c.1750G>A ENSP00000438689.2:p.Glu584Lys
ENST00000578033.1:n.12G>A
ENST00000578319.5:n.262G>A
ENST00000578711.1:n.1140G>A
ENST00000578809.5:n.253G>A
ENST00000579425.5:n.797G>A
ENST00000579546.1:c.416G>A
ENST00000582450.1:n.278G>A
ENST00000583074.5:n.300-71G>A
ENST00000583848.5:c.65-18G>A ENSP00000466487.1:n.65-18G>A
ENST00000583850.5:n.452G>A
ENST00000583858.5:c.612G>A
ENST00000585203.6:n.872G>A
NM_000018.3:c.1681G>A NP_000009.1:p.Glu561Lys
NM_001033859.2:c.1615G>A NP_001029031.1:p.Glu539Lys
NM_001270447.1:c.1750G>A NP_001257376.1:p.Glu584Lys
NM_001270448.1:c.1453G>A NP_001257377.1:p.Glu485Lys
XM_006721516.2:c.1679-71G>A XP_006721579.2:n.1679-71G>A
XM_011523829.1:c.1577-71G>A XP_011522131.1:n.1577-71G>A
XM_011523830.1:c.1579G>A XP_011522132.1:p.Glu527Lys
XR_934021.1:n.1784G>A
XR_934022.1:n.1690G>A
XR_934023.1:n.1688-71G>A
XM_006721516.3:c.1679-71G>A XP_006721579.2:n.1679-71G>A
XM_011523829.2:c.1577-71G>A XP_011522131.1:n.1577-71G>A
XM_011523830.2:c.1579G>A XP_011522132.1:p.Glu527Lys
XM_024450741.1:c.1669G>A XP_024306509.1:p.Glu557Lys
XR_934021.2:n.1736G>A
XR_934022.2:n.1642G>A
XR_934023.2:n.1640-71G>A
NM_000018.4:c.1681G>A MANE Select NP_000009.1:p.Glu561Lys
NM_001033859.3:c.1615G>A NP_001029031.1:p.Glu539Lys
NM_001270447.2:c.1750G>A NP_001257376.1:p.Glu584Lys
NM_001270448.2:c.1453G>A NP_001257377.1:p.Glu485Lys