Canonical Allele Identifier: CA397725393
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224356G>C , CM000679.2:g.7224356G>C GRCh38
NC_000017.10:g.7127675G>C , CM000679.1:g.7127675G>C GRCh37
NC_000017.9:g.7068399G>C NCBI36
NG_007975.1:g.9523G>C
NG_008391.2:g.695C>G
NG_033038.1:g.15189C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1568G>C MANE Select ENSP00000349297.5:p.Gly523Ala
ENST00000322910.9:c.*1523G>C ENSP00000325395.5:n.*1523G>C
ENST00000350303.9:c.1502G>C ENSP00000344152.5:p.Gly501Ala
ENST00000356839.9:c.1568G>C ENSP00000349297.5:p.Gly523Ala
ENST00000542255.6:c.426G>C
ENST00000543245.6:c.1637G>C ENSP00000438689.2:p.Gly546Ala
ENST00000578319.5:n.63G>C
ENST00000578711.1:n.852G>C
ENST00000578809.5:n.140G>C
ENST00000579391.1:n.176G>C
ENST00000579425.5:n.684G>C
ENST00000579546.1:c.307G>C
ENST00000579894.5:n.355G>C
ENST00000582450.1:n.76G>C
ENST00000583074.5:n.189G>C
ENST00000583850.5:n.343G>C
ENST00000583858.5:c.499G>C
ENST00000585203.6:n.759G>C
NM_000018.3:c.1568G>C NP_000009.1:p.Gly523Ala
NM_001033859.2:c.1502G>C NP_001029031.1:p.Gly501Ala
NM_001270447.1:c.1637G>C NP_001257376.1:p.Gly546Ala
NM_001270448.1:c.1340G>C NP_001257377.1:p.Gly447Ala
XM_006721516.2:c.1568G>C XP_006721579.2:p.Gly523Ala
XM_011523829.1:c.1470G>C XP_011522131.1:p.Arg490=
XM_011523830.1:c.1470G>C XP_011522132.1:p.Arg490=
XR_934021.1:n.1675G>C
XR_934022.1:n.1577G>C
XR_934023.1:n.1577G>C
XM_006721516.3:c.1568G>C XP_006721579.2:p.Gly523Ala
XM_011523829.2:c.1470G>C XP_011522131.1:p.Arg490=
XM_011523830.2:c.1470G>C XP_011522132.1:p.Arg490=
XM_024450741.1:c.1470G>C XP_024306509.1:p.Arg490=
XR_934021.2:n.1627G>C
XR_934022.2:n.1529G>C
XR_934023.2:n.1529G>C
NM_000018.4:c.1568G>C MANE Select NP_000009.1:p.Gly523Ala
NM_001033859.3:c.1502G>C NP_001029031.1:p.Gly501Ala
NM_001270447.2:c.1637G>C NP_001257376.1:p.Gly546Ala
NM_001270448.2:c.1340G>C NP_001257377.1:p.Gly447Ala