Canonical Allele Identifier: CA2245701003
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222049C= , CM000679.2:g.7222049C= GRCh38
NC_000017.10:g.7125368C= , CM000679.1:g.7125368C= GRCh37
NC_000017.9:g.7066092C= NCBI36
NG_007975.1:g.7216C=
NG_008391.2:g.3002G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.720C= MANE Select ENSP00000349297.5:p.Tyr240=
ENST00000322910.9:c.*675C= ENSP00000325395.5:n.*675C=
ENST00000350303.9:c.654C= ENSP00000344152.5:p.Tyr218=
ENST00000356839.9:c.720C= ENSP00000349297.5:p.Tyr240=
ENST00000543245.6:c.789C= ENSP00000438689.2:p.Tyr263=
ENST00000577191.5:n.797C=
ENST00000577857.5:n.536C=
ENST00000579286.5:n.901C=
ENST00000580365.1:n.451C=
ENST00000581378.5:c.438C=
ENST00000582379.1:n.104C=
ENST00000583760.1:n.502C=
NM_000018.3:c.720C= NP_000009.1:p.Tyr240=
NM_001033859.2:c.654C= NP_001029031.1:p.Tyr218=
NM_001270447.1:c.789C= NP_001257376.1:p.Tyr263=
NM_001270448.1:c.492C= NP_001257377.1:p.Tyr164=
XM_006721516.2:c.720C= XP_006721579.2:p.Tyr240=
XM_011523829.1:c.720C= XP_011522131.1:p.Tyr240=
XM_011523830.1:c.720C= XP_011522132.1:p.Tyr240=
XR_934021.1:n.827C=
XR_934022.1:n.827C=
XR_934023.1:n.827C=
XM_006721516.3:c.720C= XP_006721579.2:p.Tyr240=
XM_011523829.2:c.720C= XP_011522131.1:p.Tyr240=
XM_011523830.2:c.720C= XP_011522132.1:p.Tyr240=
XM_024450741.1:c.720C= XP_024306509.1:p.Tyr240=
XR_934021.2:n.779C=
XR_934022.2:n.779C=
XR_934023.2:n.779C=
NM_000018.4:c.720C= MANE Select NP_000009.1:p.Tyr240=
NM_001033859.3:c.654C= NP_001029031.1:p.Tyr218=
NM_001270447.2:c.789C= NP_001257376.1:p.Tyr263=
NM_001270448.2:c.492C= NP_001257377.1:p.Tyr164=