Canonical Allele Identifier: CA397725668
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224652T>A , CM000679.2:g.7224652T>A GRCh38
NC_000017.10:g.7127971T>A , CM000679.1:g.7127971T>A GRCh37
NC_000017.9:g.7068695T>A NCBI36
NG_007975.1:g.9819T>A
NG_008391.2:g.399A>T
NG_033038.1:g.14893A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1689T>A MANE Select ENSP00000349297.5:p.Phe563Leu
ENST00000322910.9:c.*1644T>A ENSP00000325395.5:n.*1644T>A
ENST00000350303.9:c.1623T>A ENSP00000344152.5:p.Phe541Leu
ENST00000356839.9:c.1689T>A ENSP00000349297.5:p.Phe563Leu
ENST00000542255.6:c.537-63T>A
ENST00000543245.6:c.1758T>A ENSP00000438689.2:p.Phe586Leu
ENST00000578033.1:n.20T>A
ENST00000578319.5:n.270T>A
ENST00000578711.1:n.1148T>A
ENST00000578809.5:n.261T>A
ENST00000579425.5:n.805T>A
ENST00000579546.1:c.424T>A
ENST00000582450.1:n.286T>A
ENST00000583074.5:n.300-63T>A
ENST00000583848.5:c.65-10T>A ENSP00000466487.1:n.65-10T>A
ENST00000583850.5:n.460T>A
ENST00000583858.5:c.620T>A
ENST00000585203.6:n.880T>A
NM_000018.3:c.1689T>A NP_000009.1:p.Phe563Leu
NM_001033859.2:c.1623T>A NP_001029031.1:p.Phe541Leu
NM_001270447.1:c.1758T>A NP_001257376.1:p.Phe586Leu
NM_001270448.1:c.1461T>A NP_001257377.1:p.Phe487Leu
XM_006721516.2:c.1679-63T>A XP_006721579.2:n.1679-63T>A
XM_011523829.1:c.1577-63T>A XP_011522131.1:n.1577-63T>A
XM_011523830.1:c.1587T>A XP_011522132.1:p.Phe529Leu
XR_934021.1:n.1792T>A
XR_934022.1:n.1698T>A
XR_934023.1:n.1688-63T>A
XM_006721516.3:c.1679-63T>A XP_006721579.2:n.1679-63T>A
XM_011523829.2:c.1577-63T>A XP_011522131.1:n.1577-63T>A
XM_011523830.2:c.1587T>A XP_011522132.1:p.Phe529Leu
XM_024450741.1:c.1677T>A XP_024306509.1:p.Phe559Leu
XR_934021.2:n.1744T>A
XR_934022.2:n.1650T>A
XR_934023.2:n.1640-63T>A
NM_000018.4:c.1689T>A MANE Select NP_000009.1:p.Phe563Leu
NM_001033859.3:c.1623T>A NP_001029031.1:p.Phe541Leu
NM_001270447.2:c.1758T>A NP_001257376.1:p.Phe586Leu
NM_001270448.2:c.1461T>A NP_001257377.1:p.Phe487Leu