Canonical Allele Identifier: CA2245701025
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222057T= , CM000679.2:g.7222057T= GRCh38
NC_000017.10:g.7125376T= , CM000679.1:g.7125376T= GRCh37
NC_000017.9:g.7066100T= NCBI36
NG_007975.1:g.7224T=
NG_008391.2:g.2994A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.728T= MANE Select ENSP00000349297.5:p.Leu243=
ENST00000322910.9:c.*683T= ENSP00000325395.5:n.*683T=
ENST00000350303.9:c.662T= ENSP00000344152.5:p.Leu221=
ENST00000356839.9:c.728T= ENSP00000349297.5:p.Leu243=
ENST00000543245.6:c.797T= ENSP00000438689.2:p.Leu266=
ENST00000577191.5:n.805T=
ENST00000577857.5:n.544T=
ENST00000579286.5:n.909T=
ENST00000580365.1:n.459T=
ENST00000581378.5:c.446T=
ENST00000582379.1:n.112T=
ENST00000583760.1:n.510T=
NM_000018.3:c.728T= NP_000009.1:p.Leu243=
NM_001033859.2:c.662T= NP_001029031.1:p.Leu221=
NM_001270447.1:c.797T= NP_001257376.1:p.Leu266=
NM_001270448.1:c.500T= NP_001257377.1:p.Leu167=
XM_006721516.2:c.728T= XP_006721579.2:p.Leu243=
XM_011523829.1:c.728T= XP_011522131.1:p.Leu243=
XM_011523830.1:c.728T= XP_011522132.1:p.Leu243=
XR_934021.1:n.835T=
XR_934022.1:n.835T=
XR_934023.1:n.835T=
XM_006721516.3:c.728T= XP_006721579.2:p.Leu243=
XM_011523829.2:c.728T= XP_011522131.1:p.Leu243=
XM_011523830.2:c.728T= XP_011522132.1:p.Leu243=
XM_024450741.1:c.728T= XP_024306509.1:p.Leu243=
XR_934021.2:n.787T=
XR_934022.2:n.787T=
XR_934023.2:n.787T=
NM_000018.4:c.728T= MANE Select NP_000009.1:p.Leu243=
NM_001033859.3:c.662T= NP_001029031.1:p.Leu221=
NM_001270447.2:c.797T= NP_001257376.1:p.Leu266=
NM_001270448.2:c.500T= NP_001257377.1:p.Leu167=