Canonical Allele Identifier: CA2245700434
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221665T= , CM000679.2:g.7221665T= GRCh38
NC_000017.10:g.7124984T= , CM000679.1:g.7124984T= GRCh37
NC_000017.9:g.7065708T= NCBI36
NG_007975.1:g.6832T=
NG_008391.2:g.3386A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.605T= MANE Select ENSP00000349297.5:p.Leu202=
ENST00000322910.9:c.*560T= ENSP00000325395.5:n.*560T=
ENST00000350303.9:c.539T= ENSP00000344152.5:p.Leu180=
ENST00000356839.9:c.605T= ENSP00000349297.5:p.Leu202=
ENST00000543245.6:c.674T= ENSP00000438689.2:p.Leu225=
ENST00000577191.5:n.682T=
ENST00000577857.5:n.421T=
ENST00000579286.5:n.786T=
ENST00000579886.2:c.443T= ENSP00000463246.1:p.Leu148=
ENST00000580365.1:n.336T=
ENST00000581378.5:c.323T=
ENST00000581562.5:n.525-287T=
ENST00000583312.5:c.605T= ENSP00000467920.1:p.Leu202=
ENST00000583760.1:n.387T=
NM_000018.3:c.605T= NP_000009.1:p.Leu202=
NM_001033859.2:c.539T= NP_001029031.1:p.Leu180=
NM_001270447.1:c.674T= NP_001257376.1:p.Leu225=
NM_001270448.1:c.377T= NP_001257377.1:p.Leu126=
XM_006721516.2:c.605T= XP_006721579.2:p.Leu202=
XM_011523829.1:c.605T= XP_011522131.1:p.Leu202=
XM_011523830.1:c.605T= XP_011522132.1:p.Leu202=
XR_934021.1:n.712T=
XR_934022.1:n.712T=
XR_934023.1:n.712T=
XM_006721516.3:c.605T= XP_006721579.2:p.Leu202=
XM_011523829.2:c.605T= XP_011522131.1:p.Leu202=
XM_011523830.2:c.605T= XP_011522132.1:p.Leu202=
XM_024450741.1:c.605T= XP_024306509.1:p.Leu202=
XR_934021.2:n.664T=
XR_934022.2:n.664T=
XR_934023.2:n.664T=
NM_000018.4:c.605T= MANE Select NP_000009.1:p.Leu202=
NM_001033859.3:c.539T= NP_001029031.1:p.Leu180=
NM_001270447.2:c.674T= NP_001257376.1:p.Leu225=
NM_001270448.2:c.377T= NP_001257377.1:p.Leu126=