Canonical Allele Identifier: CA2245711452
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223656A= , CM000679.2:g.7223656A= GRCh38
NC_000017.10:g.7126975A= , CM000679.1:g.7126975A= GRCh37
NC_000017.9:g.7067699A= NCBI36
NG_007975.1:g.8823A=
NG_008391.2:g.1395T=
NG_033038.1:g.15889T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1195A= MANE Select ENSP00000349297.5:p.Met399=
ENST00000322910.9:c.*1150A= ENSP00000325395.5:n.*1150A=
ENST00000350303.9:c.1129A= ENSP00000344152.5:p.Met377=
ENST00000356839.9:c.1195A= ENSP00000349297.5:p.Met399=
ENST00000542255.6:c.53A=
ENST00000543245.6:c.1264A= ENSP00000438689.2:p.Met422=
ENST00000578579.2:n.366A=
ENST00000578711.1:n.152A=
ENST00000578824.5:n.611A=
ENST00000579425.5:n.219A=
ENST00000579546.1:c.32A=
ENST00000583858.5:c.224A=
ENST00000585203.6:n.403A=
NM_000018.3:c.1195A= NP_000009.1:p.Met399=
NM_001033859.2:c.1129A= NP_001029031.1:p.Met377=
NM_001270447.1:c.1264A= NP_001257376.1:p.Met422=
NM_001270448.1:c.967A= NP_001257377.1:p.Met323=
XM_006721516.2:c.1195A= XP_006721579.2:p.Met399=
XM_011523829.1:c.1195A= XP_011522131.1:p.Met399=
XM_011523830.1:c.1195A= XP_011522132.1:p.Met399=
XR_934021.1:n.1302A=
XR_934022.1:n.1302A=
XR_934023.1:n.1302A=
XM_006721516.3:c.1195A= XP_006721579.2:p.Met399=
XM_011523829.2:c.1195A= XP_011522131.1:p.Met399=
XM_011523830.2:c.1195A= XP_011522132.1:p.Met399=
XM_024450741.1:c.1195A= XP_024306509.1:p.Met399=
XR_934021.2:n.1254A=
XR_934022.2:n.1254A=
XR_934023.2:n.1254A=
NM_000018.4:c.1195A= MANE Select NP_000009.1:p.Met399=
NM_001033859.3:c.1129A= NP_001029031.1:p.Met377=
NM_001270447.2:c.1264A= NP_001257376.1:p.Met422=
NM_001270448.2:c.967A= NP_001257377.1:p.Met323=