Canonical Allele Identifier: CA2245714433
Gene: ACADVL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224491T= , CM000679.2:g.7224491T= GRCh38
NC_000017.10:g.7127810T= , CM000679.1:g.7127810T= GRCh37
NC_000017.9:g.7068534T= NCBI36
NG_007975.1:g.9658T=
NG_008391.2:g.560A=
NG_033038.1:g.15054A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1617T= MANE Select ENSP00000349297.5:p.Ala539=
ENST00000322910.9:c.*1572T= ENSP00000325395.5:n.*1572T=
ENST00000350303.9:c.1551T= ENSP00000344152.5:p.Ala517=
ENST00000356839.9:c.1617T= ENSP00000349297.5:p.Ala539=
ENST00000542255.6:c.475T=
ENST00000543245.6:c.1686T= ENSP00000438689.2:p.Ala562=
ENST00000578319.5:n.198T=
ENST00000578711.1:n.987T=
ENST00000578809.5:n.189T=
ENST00000579391.1:n.221T=
ENST00000579425.5:n.733T=
ENST00000579546.1:c.352T=
ENST00000579894.5:n.404T=
ENST00000582450.1:n.125T=
ENST00000583074.5:n.238T=
ENST00000583848.5:c.3T= ENSP00000466487.1:p.Ala1=
ENST00000583850.5:n.388T=
ENST00000583858.5:c.548T=
ENST00000585203.6:n.808T=
NM_000018.3:c.1617T= NP_000009.1:p.Ala539=
NM_001033859.2:c.1551T= NP_001029031.1:p.Ala517=
NM_001270447.1:c.1686T= NP_001257376.1:p.Ala562=
NM_001270448.1:c.1389T= NP_001257377.1:p.Ala463=
XM_006721516.2:c.1617T= XP_006721579.2:p.Ala539=
XM_011523829.1:c.1515T= XP_011522131.1:p.Ala505=
XM_011523830.1:c.1515T= XP_011522132.1:p.Ala505=
XR_934021.1:n.1720T=
XR_934022.1:n.1626T=
XR_934023.1:n.1626T=
XM_006721516.3:c.1617T= XP_006721579.2:p.Ala539=
XM_011523829.2:c.1515T= XP_011522131.1:p.Ala505=
XM_011523830.2:c.1515T= XP_011522132.1:p.Ala505=
XM_024450741.1:c.1605T= XP_024306509.1:p.Ala535=
XR_934021.2:n.1672T=
XR_934022.2:n.1578T=
XR_934023.2:n.1578T=
NM_000018.4:c.1617T= MANE Select NP_000009.1:p.Ala539=
NM_001033859.3:c.1551T= NP_001029031.1:p.Ala517=
NM_001270447.2:c.1686T= NP_001257376.1:p.Ala562=
NM_001270448.2:c.1389T= NP_001257377.1:p.Ala463=
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