Canonical Allele Identifier: CA2245711429
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223647A= , CM000679.2:g.7223647A= GRCh38
NC_000017.10:g.7126966A= , CM000679.1:g.7126966A= GRCh37
NC_000017.9:g.7067690A= NCBI36
NG_007975.1:g.8814A=
NG_008391.2:g.1404T=
NG_033038.1:g.15898T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1186A= MANE Select ENSP00000349297.5:p.Met396=
ENST00000322910.9:c.*1141A= ENSP00000325395.5:n.*1141A=
ENST00000350303.9:c.1120A= ENSP00000344152.5:p.Met374=
ENST00000356839.9:c.1186A= ENSP00000349297.5:p.Met396=
ENST00000542255.6:c.44A=
ENST00000543245.6:c.1255A= ENSP00000438689.2:p.Met419=
ENST00000578579.2:n.357A=
ENST00000578711.1:n.143A=
ENST00000578824.5:n.602A=
ENST00000579425.5:n.210A=
ENST00000579546.1:c.23A=
ENST00000583858.5:c.215A=
ENST00000585203.6:n.394A=
NM_000018.3:c.1186A= NP_000009.1:p.Met396=
NM_001033859.2:c.1120A= NP_001029031.1:p.Met374=
NM_001270447.1:c.1255A= NP_001257376.1:p.Met419=
NM_001270448.1:c.958A= NP_001257377.1:p.Met320=
XM_006721516.2:c.1186A= XP_006721579.2:p.Met396=
XM_011523829.1:c.1186A= XP_011522131.1:p.Met396=
XM_011523830.1:c.1186A= XP_011522132.1:p.Met396=
XR_934021.1:n.1293A=
XR_934022.1:n.1293A=
XR_934023.1:n.1293A=
XM_006721516.3:c.1186A= XP_006721579.2:p.Met396=
XM_011523829.2:c.1186A= XP_011522131.1:p.Met396=
XM_011523830.2:c.1186A= XP_011522132.1:p.Met396=
XM_024450741.1:c.1186A= XP_024306509.1:p.Met396=
XR_934021.2:n.1245A=
XR_934022.2:n.1245A=
XR_934023.2:n.1245A=
NM_000018.4:c.1186A= MANE Select NP_000009.1:p.Met396=
NM_001033859.3:c.1120A= NP_001029031.1:p.Met374=
NM_001270447.2:c.1255A= NP_001257376.1:p.Met419=
NM_001270448.2:c.958A= NP_001257377.1:p.Met320=