Canonical Allele Identifier: CA397725382
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224350T>G , CM000679.2:g.7224350T>G GRCh38
NC_000017.10:g.7127669T>G , CM000679.1:g.7127669T>G GRCh37
NC_000017.9:g.7068393T>G NCBI36
NG_007975.1:g.9517T>G
NG_008391.2:g.701A>C
NG_033038.1:g.15195A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1562T>G MANE Select ENSP00000349297.5:p.Leu521Arg
ENST00000322910.9:c.*1517T>G ENSP00000325395.5:n.*1517T>G
ENST00000350303.9:c.1496T>G ENSP00000344152.5:p.Leu499Arg
ENST00000356839.9:c.1562T>G ENSP00000349297.5:p.Leu521Arg
ENST00000542255.6:c.420T>G
ENST00000543245.6:c.1631T>G ENSP00000438689.2:p.Leu544Arg
ENST00000578319.5:n.57T>G
ENST00000578711.1:n.846T>G
ENST00000578809.5:n.134T>G
ENST00000579391.1:n.170T>G
ENST00000579425.5:n.678T>G
ENST00000579546.1:c.301T>G
ENST00000579894.5:n.349T>G
ENST00000582450.1:n.70T>G
ENST00000583074.5:n.183T>G
ENST00000583850.5:n.337T>G
ENST00000583858.5:c.493T>G
ENST00000585203.6:n.753T>G
NM_000018.3:c.1562T>G NP_000009.1:p.Leu521Arg
NM_001033859.2:c.1496T>G NP_001029031.1:p.Leu499Arg
NM_001270447.1:c.1631T>G NP_001257376.1:p.Leu544Arg
NM_001270448.1:c.1334T>G NP_001257377.1:p.Leu445Arg
XM_006721516.2:c.1562T>G XP_006721579.2:p.Leu521Arg
XM_011523829.1:c.1464T>G XP_011522131.1:p.Ser488=
XM_011523830.1:c.1464T>G XP_011522132.1:p.Ser488=
XR_934021.1:n.1669T>G
XR_934022.1:n.1571T>G
XR_934023.1:n.1571T>G
XM_006721516.3:c.1562T>G XP_006721579.2:p.Leu521Arg
XM_011523829.2:c.1464T>G XP_011522131.1:p.Ser488=
XM_011523830.2:c.1464T>G XP_011522132.1:p.Ser488=
XM_024450741.1:c.1464T>G XP_024306509.1:p.Ser488=
XR_934021.2:n.1621T>G
XR_934022.2:n.1523T>G
XR_934023.2:n.1523T>G
NM_000018.4:c.1562T>G MANE Select NP_000009.1:p.Leu521Arg
NM_001033859.3:c.1496T>G NP_001029031.1:p.Leu499Arg
NM_001270447.2:c.1631T>G NP_001257376.1:p.Leu544Arg
NM_001270448.2:c.1334T>G NP_001257377.1:p.Leu445Arg