Canonical Allele Identifier: CA2245709714
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222797C= , CM000679.2:g.7222797C= GRCh38
NC_000017.10:g.7126116C= , CM000679.1:g.7126116C= GRCh37
NC_000017.9:g.7066840C= NCBI36
NG_007975.1:g.7964C=
NG_008391.2:g.2254G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1009C= MANE Select ENSP00000349297.5:p.Leu337=
ENST00000322910.9:c.*964C= ENSP00000325395.5:n.*964C=
ENST00000350303.9:c.943C= ENSP00000344152.5:p.Leu315=
ENST00000356839.9:c.1009C= ENSP00000349297.5:p.Leu337=
ENST00000543245.6:c.1078C= ENSP00000438689.2:p.Leu360=
ENST00000578824.5:n.158C=
ENST00000581378.5:c.727C=
ENST00000582379.1:n.393C=
ENST00000583858.5:c.38C=
NM_000018.3:c.1009C= NP_000009.1:p.Leu337=
NM_001033859.2:c.943C= NP_001029031.1:p.Leu315=
NM_001270447.1:c.1078C= NP_001257376.1:p.Leu360=
NM_001270448.1:c.781C= NP_001257377.1:p.Leu261=
XM_006721516.2:c.1009C= XP_006721579.2:p.Leu337=
XM_011523829.1:c.1009C= XP_011522131.1:p.Leu337=
XM_011523830.1:c.1009C= XP_011522132.1:p.Leu337=
XR_934021.1:n.1116C=
XR_934022.1:n.1116C=
XR_934023.1:n.1116C=
XM_006721516.3:c.1009C= XP_006721579.2:p.Leu337=
XM_011523829.2:c.1009C= XP_011522131.1:p.Leu337=
XM_011523830.2:c.1009C= XP_011522132.1:p.Leu337=
XM_024450741.1:c.1009C= XP_024306509.1:p.Leu337=
XR_934021.2:n.1068C=
XR_934022.2:n.1068C=
XR_934023.2:n.1068C=
NM_000018.4:c.1009C= MANE Select NP_000009.1:p.Leu337=
NM_001033859.3:c.943C= NP_001029031.1:p.Leu315=
NM_001270447.2:c.1078C= NP_001257376.1:p.Leu360=
NM_001270448.2:c.781C= NP_001257377.1:p.Leu261=