Canonical Allele Identifier: CA2245713757
Gene: ACADVL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224324G= , CM000679.2:g.7224324G= GRCh38
NC_000017.10:g.7127643G= , CM000679.1:g.7127643G= GRCh37
NC_000017.9:g.7068367G= NCBI36
NG_007975.1:g.9491G=
NG_008391.2:g.727C=
NG_033038.1:g.15221C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1536G= MANE Select ENSP00000349297.5:p.Arg512=
ENST00000322910.9:c.*1491G= ENSP00000325395.5:n.*1491G=
ENST00000350303.9:c.1470G= ENSP00000344152.5:p.Arg490=
ENST00000356839.9:c.1536G= ENSP00000349297.5:p.Arg512=
ENST00000542255.6:c.394G=
ENST00000543245.6:c.1605G= ENSP00000438689.2:p.Arg535=
ENST00000578319.5:n.31G=
ENST00000578711.1:n.820G=
ENST00000578809.5:n.108G=
ENST00000579391.1:n.144G=
ENST00000579425.5:n.652G=
ENST00000579546.1:c.275G=
ENST00000579894.5:n.323G=
ENST00000582450.1:n.44G=
ENST00000583074.5:n.157G=
ENST00000583850.5:n.311G=
ENST00000583858.5:c.467G=
ENST00000585203.6:n.727G=
NM_000018.3:c.1536G= NP_000009.1:p.Arg512=
NM_001033859.2:c.1470G= NP_001029031.1:p.Arg490=
NM_001270447.1:c.1605G= NP_001257376.1:p.Arg535=
NM_001270448.1:c.1308G= NP_001257377.1:p.Arg436=
XM_006721516.2:c.1536G= XP_006721579.2:p.Arg512=
XM_011523829.1:c.1438G= XP_011522131.1:p.Gly480=
XM_011523830.1:c.1438G= XP_011522132.1:p.Gly480=
XR_934021.1:n.1643G=
XR_934022.1:n.1545G=
XR_934023.1:n.1545G=
XM_006721516.3:c.1536G= XP_006721579.2:p.Arg512=
XM_011523829.2:c.1438G= XP_011522131.1:p.Gly480=
XM_011523830.2:c.1438G= XP_011522132.1:p.Gly480=
XM_024450741.1:c.1438G= XP_024306509.1:p.Gly480=
XR_934021.2:n.1595G=
XR_934022.2:n.1497G=
XR_934023.2:n.1497G=
NM_000018.4:c.1536G= MANE Select NP_000009.1:p.Arg512=
NM_001033859.3:c.1470G= NP_001029031.1:p.Arg490=
NM_001270447.2:c.1605G= NP_001257376.1:p.Arg535=
NM_001270448.2:c.1308G= NP_001257377.1:p.Arg436=
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