Canonical Allele Identifier: CA2245700414
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221662A= , CM000679.2:g.7221662A= GRCh38
NC_000017.10:g.7124981A= , CM000679.1:g.7124981A= GRCh37
NC_000017.9:g.7065705A= NCBI36
NG_007975.1:g.6829A=
NG_008391.2:g.3389T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.602A= MANE Select ENSP00000349297.5:p.Tyr201=
ENST00000322910.9:c.*557A= ENSP00000325395.5:n.*557A=
ENST00000350303.9:c.536A= ENSP00000344152.5:p.Tyr179=
ENST00000356839.9:c.602A= ENSP00000349297.5:p.Tyr201=
ENST00000543245.6:c.671A= ENSP00000438689.2:p.Tyr224=
ENST00000577191.5:n.679A=
ENST00000577857.5:n.418A=
ENST00000579286.5:n.783A=
ENST00000579886.2:c.440A= ENSP00000463246.1:p.Tyr147=
ENST00000580365.1:n.333A=
ENST00000581378.5:c.320A=
ENST00000581562.5:n.525-290A=
ENST00000583312.5:c.602A= ENSP00000467920.1:p.Tyr201=
ENST00000583760.1:n.384A=
NM_000018.3:c.602A= NP_000009.1:p.Tyr201=
NM_001033859.2:c.536A= NP_001029031.1:p.Tyr179=
NM_001270447.1:c.671A= NP_001257376.1:p.Tyr224=
NM_001270448.1:c.374A= NP_001257377.1:p.Tyr125=
XM_006721516.2:c.602A= XP_006721579.2:p.Tyr201=
XM_011523829.1:c.602A= XP_011522131.1:p.Tyr201=
XM_011523830.1:c.602A= XP_011522132.1:p.Tyr201=
XR_934021.1:n.709A=
XR_934022.1:n.709A=
XR_934023.1:n.709A=
XM_006721516.3:c.602A= XP_006721579.2:p.Tyr201=
XM_011523829.2:c.602A= XP_011522131.1:p.Tyr201=
XM_011523830.2:c.602A= XP_011522132.1:p.Tyr201=
XM_024450741.1:c.602A= XP_024306509.1:p.Tyr201=
XR_934021.2:n.661A=
XR_934022.2:n.661A=
XR_934023.2:n.661A=
NM_000018.4:c.602A= MANE Select NP_000009.1:p.Tyr201=
NM_001033859.3:c.536A= NP_001029031.1:p.Tyr179=
NM_001270447.2:c.671A= NP_001257376.1:p.Tyr224=
NM_001270448.2:c.374A= NP_001257377.1:p.Tyr125=