Canonical Allele Identifier: CA2245711659
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223711T= , CM000679.2:g.7223711T= GRCh38
NC_000017.10:g.7127030T= , CM000679.1:g.7127030T= GRCh37
NC_000017.9:g.7067754T= NCBI36
NG_007975.1:g.8878T=
NG_008391.2:g.1340A=
NG_033038.1:g.15834A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1250T= MANE Select ENSP00000349297.5:p.Ile417=
ENST00000322910.9:c.*1205T= ENSP00000325395.5:n.*1205T=
ENST00000350303.9:c.1184T= ENSP00000344152.5:p.Ile395=
ENST00000356839.9:c.1250T= ENSP00000349297.5:p.Ile417=
ENST00000542255.6:c.108T=
ENST00000543245.6:c.1319T= ENSP00000438689.2:p.Ile440=
ENST00000578579.2:n.421T=
ENST00000578711.1:n.207T=
ENST00000578824.5:n.666T=
ENST00000579425.5:n.274T=
ENST00000579546.1:c.87T=
ENST00000583850.5:n.25T=
ENST00000583858.5:c.279T=
ENST00000585203.6:n.458T=
NM_000018.3:c.1250T= NP_000009.1:p.Ile417=
NM_001033859.2:c.1184T= NP_001029031.1:p.Ile395=
NM_001270447.1:c.1319T= NP_001257376.1:p.Ile440=
NM_001270448.1:c.1022T= NP_001257377.1:p.Ile341=
XM_006721516.2:c.1250T= XP_006721579.2:p.Ile417=
XM_011523829.1:c.1250T= XP_011522131.1:p.Ile417=
XM_011523830.1:c.1250T= XP_011522132.1:p.Ile417=
XR_934021.1:n.1357T=
XR_934022.1:n.1357T=
XR_934023.1:n.1357T=
XM_006721516.3:c.1250T= XP_006721579.2:p.Ile417=
XM_011523829.2:c.1250T= XP_011522131.1:p.Ile417=
XM_011523830.2:c.1250T= XP_011522132.1:p.Ile417=
XM_024450741.1:c.1250T= XP_024306509.1:p.Ile417=
XR_934021.2:n.1309T=
XR_934022.2:n.1309T=
XR_934023.2:n.1309T=
NM_000018.4:c.1250T= MANE Select NP_000009.1:p.Ile417=
NM_001033859.3:c.1184T= NP_001029031.1:p.Ile395=
NM_001270447.2:c.1319T= NP_001257376.1:p.Ile440=
NM_001270448.2:c.1022T= NP_001257377.1:p.Ile341=