Canonical Allele Identifier: CA2245699371
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221060T= , CM000679.2:g.7221060T= GRCh38
NC_000017.10:g.7124379T= , CM000679.1:g.7124379T= GRCh37
NC_000017.9:g.7065103T= NCBI36
NG_007975.1:g.6227T=
NG_008391.2:g.3991A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.477+2T= MANE Select ENSP00000349297.5:n.477+2T=
ENST00000322910.9:c.*432+2T= ENSP00000325395.5:n.*432+2T=
ENST00000350303.9:c.411+2T= ENSP00000344152.5:n.411+2T=
ENST00000356839.9:c.477+2T= ENSP00000349297.5:n.477+2T=
ENST00000543245.6:c.546+2T= ENSP00000438689.2:n.546+2T=
ENST00000577191.5:n.554+2T=
ENST00000577433.5:n.685+2T=
ENST00000577857.5:n.293+230T=
ENST00000579286.5:n.658+2T=
ENST00000579886.2:c.315+2T= ENSP00000463246.1:n.315+2T=
ENST00000580365.1:n.208+2T=
ENST00000581378.5:c.176+2T=
ENST00000581562.5:n.524+2T=
ENST00000582056.5:n.662T=
ENST00000582166.1:n.458+2T=
ENST00000583312.5:c.477+2T= ENSP00000467920.1:n.477+2T=
NM_000018.3:c.477+2T= NP_000009.1:n.477+2T=
NM_001033859.2:c.411+2T= NP_001029031.1:n.411+2T=
NM_001270447.1:c.546+2T= NP_001257376.1:n.546+2T=
NM_001270448.1:c.249+2T= NP_001257377.1:n.249+2T=
XM_006721516.2:c.477+2T= XP_006721579.2:n.477+2T=
XM_011523829.1:c.477+2T= XP_011522131.1:n.477+2T=
XM_011523830.1:c.477+2T= XP_011522132.1:n.477+2T=
XR_934021.1:n.584+2T=
XR_934022.1:n.584+2T=
XR_934023.1:n.584+2T=
XM_006721516.3:c.477+2T= XP_006721579.2:n.477+2T=
XM_011523829.2:c.477+2T= XP_011522131.1:n.477+2T=
XM_011523830.2:c.477+2T= XP_011522132.1:n.477+2T=
XM_024450741.1:c.477+2T= XP_024306509.1:n.477+2T=
XR_934021.2:n.536+2T=
XR_934022.2:n.536+2T=
XR_934023.2:n.536+2T=
NM_000018.4:c.477+2T= MANE Select NP_000009.1:n.477+2T=
NM_001033859.3:c.411+2T= NP_001029031.1:n.411+2T=
NM_001270447.2:c.546+2T= NP_001257376.1:n.546+2T=
NM_001270448.2:c.249+2T= NP_001257377.1:n.249+2T=