Canonical Allele Identifier: CA397724997
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224018T>A , CM000679.2:g.7224018T>A GRCh38
NC_000017.10:g.7127337T>A , CM000679.1:g.7127337T>A GRCh37
NC_000017.9:g.7068061T>A NCBI36
NG_007975.1:g.9185T>A
NG_008391.2:g.1033A>T
NG_033038.1:g.15527A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.1383T>A MANE Select ENSP00000349297.5:p.Phe461Leu
ENST00000322910.9:c.*1338T>A ENSP00000325395.5:n.*1338T>A
ENST00000350303.9:c.1317T>A ENSP00000344152.5:p.Phe439Leu
ENST00000356839.9:c.1383T>A ENSP00000349297.5:p.Phe461Leu
ENST00000542255.6:c.241T>A
ENST00000543245.6:c.1452T>A ENSP00000438689.2:p.Phe484Leu
ENST00000578711.1:n.514T>A
ENST00000579425.5:n.499T>A
ENST00000579546.1:c.220T>A
ENST00000579894.5:n.94T>A
ENST00000583074.5:n.102T>A
ENST00000583850.5:n.158T>A
ENST00000583858.5:c.412T>A
ENST00000585203.6:n.574T>A
NM_000018.3:c.1383T>A NP_000009.1:p.Phe461Leu
NM_001033859.2:c.1317T>A NP_001029031.1:p.Phe439Leu
NM_001270447.1:c.1452T>A NP_001257376.1:p.Phe484Leu
NM_001270448.1:c.1155T>A NP_001257377.1:p.Phe385Leu
XM_006721516.2:c.1383T>A XP_006721579.2:p.Phe461Leu
XM_011523829.1:c.1383T>A XP_011522131.1:p.Phe461Leu
XM_011523830.1:c.1383T>A XP_011522132.1:p.Phe461Leu
XR_934021.1:n.1490T>A
XR_934022.1:n.1490T>A
XR_934023.1:n.1490T>A
XM_006721516.3:c.1383T>A XP_006721579.2:p.Phe461Leu
XM_011523829.2:c.1383T>A XP_011522131.1:p.Phe461Leu
XM_011523830.2:c.1383T>A XP_011522132.1:p.Phe461Leu
XM_024450741.1:c.1383T>A XP_024306509.1:p.Phe461Leu
XR_934021.2:n.1442T>A
XR_934022.2:n.1442T>A
XR_934023.2:n.1442T>A
NM_000018.4:c.1383T>A MANE Select NP_000009.1:p.Phe461Leu
NM_001033859.3:c.1317T>A NP_001029031.1:p.Phe439Leu
NM_001270447.2:c.1452T>A NP_001257376.1:p.Phe484Leu
NM_001270448.2:c.1155T>A NP_001257377.1:p.Phe385Leu