Canonical Allele Identifier: CA2245709703
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222795T= , CM000679.2:g.7222795T= GRCh38
NC_000017.10:g.7126114T= , CM000679.1:g.7126114T= GRCh37
NC_000017.9:g.7066838T= NCBI36
NG_007975.1:g.7962T=
NG_008391.2:g.2256A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1007T= MANE Select ENSP00000349297.5:p.Ile336=
ENST00000322910.9:c.*962T= ENSP00000325395.5:n.*962T=
ENST00000350303.9:c.941T= ENSP00000344152.5:p.Ile314=
ENST00000356839.9:c.1007T= ENSP00000349297.5:p.Ile336=
ENST00000543245.6:c.1076T= ENSP00000438689.2:p.Ile359=
ENST00000578824.5:n.156T=
ENST00000581378.5:c.725T=
ENST00000582379.1:n.391T=
ENST00000583858.5:c.36T=
NM_000018.3:c.1007T= NP_000009.1:p.Ile336=
NM_001033859.2:c.941T= NP_001029031.1:p.Ile314=
NM_001270447.1:c.1076T= NP_001257376.1:p.Ile359=
NM_001270448.1:c.779T= NP_001257377.1:p.Ile260=
XM_006721516.2:c.1007T= XP_006721579.2:p.Ile336=
XM_011523829.1:c.1007T= XP_011522131.1:p.Ile336=
XM_011523830.1:c.1007T= XP_011522132.1:p.Ile336=
XR_934021.1:n.1114T=
XR_934022.1:n.1114T=
XR_934023.1:n.1114T=
XM_006721516.3:c.1007T= XP_006721579.2:p.Ile336=
XM_011523829.2:c.1007T= XP_011522131.1:p.Ile336=
XM_011523830.2:c.1007T= XP_011522132.1:p.Ile336=
XM_024450741.1:c.1007T= XP_024306509.1:p.Ile336=
XR_934021.2:n.1066T=
XR_934022.2:n.1066T=
XR_934023.2:n.1066T=
NM_000018.4:c.1007T= MANE Select NP_000009.1:p.Ile336=
NM_001033859.3:c.941T= NP_001029031.1:p.Ile314=
NM_001270447.2:c.1076T= NP_001257376.1:p.Ile359=
NM_001270448.2:c.779T= NP_001257377.1:p.Ile260=