Canonical Allele Identifier: CA2245713792
Gene: ACADVL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224333G= , CM000679.2:g.7224333G= GRCh38
NC_000017.10:g.7127652G= , CM000679.1:g.7127652G= GRCh37
NC_000017.9:g.7068376G= NCBI36
NG_007975.1:g.9500G=
NG_008391.2:g.718C=
NG_033038.1:g.15212C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1545G= MANE Select ENSP00000349297.5:p.Leu515=
ENST00000322910.9:c.*1500G= ENSP00000325395.5:n.*1500G=
ENST00000350303.9:c.1479G= ENSP00000344152.5:p.Leu493=
ENST00000356839.9:c.1545G= ENSP00000349297.5:p.Leu515=
ENST00000542255.6:c.403G=
ENST00000543245.6:c.1614G= ENSP00000438689.2:p.Leu538=
ENST00000578319.5:n.40G=
ENST00000578711.1:n.829G=
ENST00000578809.5:n.117G=
ENST00000579391.1:n.153G=
ENST00000579425.5:n.661G=
ENST00000579546.1:c.284G=
ENST00000579894.5:n.332G=
ENST00000582450.1:n.53G=
ENST00000583074.5:n.166G=
ENST00000583850.5:n.320G=
ENST00000583858.5:c.476G=
ENST00000585203.6:n.736G=
NM_000018.3:c.1545G= NP_000009.1:p.Leu515=
NM_001033859.2:c.1479G= NP_001029031.1:p.Leu493=
NM_001270447.1:c.1614G= NP_001257376.1:p.Leu538=
NM_001270448.1:c.1317G= NP_001257377.1:p.Leu439=
XM_006721516.2:c.1545G= XP_006721579.2:p.Leu515=
XM_011523829.1:c.1447G= XP_011522131.1:p.Gly483=
XM_011523830.1:c.1447G= XP_011522132.1:p.Gly483=
XR_934021.1:n.1652G=
XR_934022.1:n.1554G=
XR_934023.1:n.1554G=
XM_006721516.3:c.1545G= XP_006721579.2:p.Leu515=
XM_011523829.2:c.1447G= XP_011522131.1:p.Gly483=
XM_011523830.2:c.1447G= XP_011522132.1:p.Gly483=
XM_024450741.1:c.1447G= XP_024306509.1:p.Gly483=
XR_934021.2:n.1604G=
XR_934022.2:n.1506G=
XR_934023.2:n.1506G=
NM_000018.4:c.1545G= MANE Select NP_000009.1:p.Leu515=
NM_001033859.3:c.1479G= NP_001029031.1:p.Leu493=
NM_001270447.2:c.1614G= NP_001257376.1:p.Leu538=
NM_001270448.2:c.1317G= NP_001257377.1:p.Leu439=
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