Canonical Allele Identifier: CA2245709409
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222733A= , CM000679.2:g.7222733A= GRCh38
NC_000017.10:g.7126052A= , CM000679.1:g.7126052A= GRCh37
NC_000017.9:g.7066776A= NCBI36
NG_007975.1:g.7900A=
NG_008391.2:g.2318T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.945A= MANE Select ENSP00000349297.5:p.Val315=
ENST00000322910.9:c.*900A= ENSP00000325395.5:n.*900A=
ENST00000350303.9:c.879A= ENSP00000344152.5:p.Val293=
ENST00000356839.9:c.945A= ENSP00000349297.5:p.Val315=
ENST00000543245.6:c.1014A= ENSP00000438689.2:p.Val338=
ENST00000578824.5:n.94A=
ENST00000581378.5:c.663A=
ENST00000582379.1:n.329A=
NM_000018.3:c.945A= NP_000009.1:p.Val315=
NM_001033859.2:c.879A= NP_001029031.1:p.Val293=
NM_001270447.1:c.1014A= NP_001257376.1:p.Val338=
NM_001270448.1:c.717A= NP_001257377.1:p.Val239=
XM_006721516.2:c.945A= XP_006721579.2:p.Val315=
XM_011523829.1:c.945A= XP_011522131.1:p.Val315=
XM_011523830.1:c.945A= XP_011522132.1:p.Val315=
XR_934021.1:n.1052A=
XR_934022.1:n.1052A=
XR_934023.1:n.1052A=
XM_006721516.3:c.945A= XP_006721579.2:p.Val315=
XM_011523829.2:c.945A= XP_011522131.1:p.Val315=
XM_011523830.2:c.945A= XP_011522132.1:p.Val315=
XM_024450741.1:c.945A= XP_024306509.1:p.Val315=
XR_934021.2:n.1004A=
XR_934022.2:n.1004A=
XR_934023.2:n.1004A=
NM_000018.4:c.945A= MANE Select NP_000009.1:p.Val315=
NM_001033859.3:c.879A= NP_001029031.1:p.Val293=
NM_001270447.2:c.1014A= NP_001257376.1:p.Val338=
NM_001270448.2:c.717A= NP_001257377.1:p.Val239=