Canonical Allele Identifier: CA2245709172
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222675C= , CM000679.2:g.7222675C= GRCh38
NC_000017.10:g.7125994C= , CM000679.1:g.7125994C= GRCh37
NC_000017.9:g.7066718C= NCBI36
NG_007975.1:g.7842C=
NG_008391.2:g.2376G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.887C= MANE Select ENSP00000349297.5:p.Pro296=
ENST00000322910.9:c.*842C= ENSP00000325395.5:n.*842C=
ENST00000350303.9:c.821C= ENSP00000344152.5:p.Pro274=
ENST00000356839.9:c.887C= ENSP00000349297.5:p.Pro296=
ENST00000543245.6:c.956C= ENSP00000438689.2:p.Pro319=
ENST00000578824.5:n.36C=
ENST00000581378.5:c.605C=
ENST00000582379.1:n.271C=
NM_000018.3:c.887C= NP_000009.1:p.Pro296=
NM_001033859.2:c.821C= NP_001029031.1:p.Pro274=
NM_001270447.1:c.956C= NP_001257376.1:p.Pro319=
NM_001270448.1:c.659C= NP_001257377.1:p.Pro220=
XM_006721516.2:c.887C= XP_006721579.2:p.Pro296=
XM_011523829.1:c.887C= XP_011522131.1:p.Pro296=
XM_011523830.1:c.887C= XP_011522132.1:p.Pro296=
XR_934021.1:n.994C=
XR_934022.1:n.994C=
XR_934023.1:n.994C=
XM_006721516.3:c.887C= XP_006721579.2:p.Pro296=
XM_011523829.2:c.887C= XP_011522131.1:p.Pro296=
XM_011523830.2:c.887C= XP_011522132.1:p.Pro296=
XM_024450741.1:c.887C= XP_024306509.1:p.Pro296=
XR_934021.2:n.946C=
XR_934022.2:n.946C=
XR_934023.2:n.946C=
NM_000018.4:c.887C= MANE Select NP_000009.1:p.Pro296=
NM_001033859.3:c.821C= NP_001029031.1:p.Pro274=
NM_001270447.2:c.956C= NP_001257376.1:p.Pro319=
NM_001270448.2:c.659C= NP_001257377.1:p.Pro220=