Canonical Allele Identifier: CA397725499
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224493T>A , CM000679.2:g.7224493T>A GRCh38
NC_000017.10:g.7127812T>A , CM000679.1:g.7127812T>A GRCh37
NC_000017.9:g.7068536T>A NCBI36
NG_007975.1:g.9660T>A
NG_008391.2:g.558A>T
NG_033038.1:g.15052A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1619T>A MANE Select ENSP00000349297.5:p.Leu540Gln
ENST00000322910.9:c.*1574T>A ENSP00000325395.5:n.*1574T>A
ENST00000350303.9:c.1553T>A ENSP00000344152.5:p.Leu518Gln
ENST00000356839.9:c.1619T>A ENSP00000349297.5:p.Leu540Gln
ENST00000542255.6:c.477T>A
ENST00000543245.6:c.1688T>A ENSP00000438689.2:p.Leu563Gln
ENST00000578319.5:n.200T>A
ENST00000578711.1:n.989T>A
ENST00000578809.5:n.191T>A
ENST00000579391.1:n.223T>A
ENST00000579425.5:n.735T>A
ENST00000579546.1:c.354T>A
ENST00000579894.5:n.406T>A
ENST00000582450.1:n.127T>A
ENST00000583074.5:n.240T>A
ENST00000583848.5:c.5T>A ENSP00000466487.1:p.Leu2Gln
ENST00000583850.5:n.390T>A
ENST00000583858.5:c.550T>A
ENST00000585203.6:n.810T>A
NM_000018.3:c.1619T>A NP_000009.1:p.Leu540Gln
NM_001033859.2:c.1553T>A NP_001029031.1:p.Leu518Gln
NM_001270447.1:c.1688T>A NP_001257376.1:p.Leu563Gln
NM_001270448.1:c.1391T>A NP_001257377.1:p.Leu464Gln
XM_006721516.2:c.1619T>A XP_006721579.2:p.Leu540Gln
XM_011523829.1:c.1517T>A XP_011522131.1:p.Leu506Gln
XM_011523830.1:c.1517T>A XP_011522132.1:p.Leu506Gln
XR_934021.1:n.1722T>A
XR_934022.1:n.1628T>A
XR_934023.1:n.1628T>A
XM_006721516.3:c.1619T>A XP_006721579.2:p.Leu540Gln
XM_011523829.2:c.1517T>A XP_011522131.1:p.Leu506Gln
XM_011523830.2:c.1517T>A XP_011522132.1:p.Leu506Gln
XM_024450741.1:c.1607T>A XP_024306509.1:p.Leu536Gln
XR_934021.2:n.1674T>A
XR_934022.2:n.1580T>A
XR_934023.2:n.1580T>A
NM_000018.4:c.1619T>A MANE Select NP_000009.1:p.Leu540Gln
NM_001033859.3:c.1553T>A NP_001029031.1:p.Leu518Gln
NM_001270447.2:c.1688T>A NP_001257376.1:p.Leu563Gln
NM_001270448.2:c.1391T>A NP_001257377.1:p.Leu464Gln