Canonical Allele Identifier: CA2245709254
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222686A= , CM000679.2:g.7222686A= GRCh38
NC_000017.10:g.7126005A= , CM000679.1:g.7126005A= GRCh37
NC_000017.9:g.7066729A= NCBI36
NG_007975.1:g.7853A=
NG_008391.2:g.2365T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.898A= MANE Select ENSP00000349297.5:p.Met300=
ENST00000322910.9:c.*853A= ENSP00000325395.5:n.*853A=
ENST00000350303.9:c.832A= ENSP00000344152.5:p.Met278=
ENST00000356839.9:c.898A= ENSP00000349297.5:p.Met300=
ENST00000543245.6:c.967A= ENSP00000438689.2:p.Met323=
ENST00000578824.5:n.47A=
ENST00000581378.5:c.616A=
ENST00000582379.1:n.282A=
NM_000018.3:c.898A= NP_000009.1:p.Met300=
NM_001033859.2:c.832A= NP_001029031.1:p.Met278=
NM_001270447.1:c.967A= NP_001257376.1:p.Met323=
NM_001270448.1:c.670A= NP_001257377.1:p.Met224=
XM_006721516.2:c.898A= XP_006721579.2:p.Met300=
XM_011523829.1:c.898A= XP_011522131.1:p.Met300=
XM_011523830.1:c.898A= XP_011522132.1:p.Met300=
XR_934021.1:n.1005A=
XR_934022.1:n.1005A=
XR_934023.1:n.1005A=
XM_006721516.3:c.898A= XP_006721579.2:p.Met300=
XM_011523829.2:c.898A= XP_011522131.1:p.Met300=
XM_011523830.2:c.898A= XP_011522132.1:p.Met300=
XM_024450741.1:c.898A= XP_024306509.1:p.Met300=
XR_934021.2:n.957A=
XR_934022.2:n.957A=
XR_934023.2:n.957A=
NM_000018.4:c.898A= MANE Select NP_000009.1:p.Met300=
NM_001033859.3:c.832A= NP_001029031.1:p.Met278=
NM_001270447.2:c.967A= NP_001257376.1:p.Met323=
NM_001270448.2:c.670A= NP_001257377.1:p.Met224=