Canonical Allele Identifier: CA397725114
Gene: ACADVL HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224144A>T , CM000679.2:g.7224144A>T GRCh38
NC_000017.10:g.7127463A>T , CM000679.1:g.7127463A>T GRCh37
NC_000017.9:g.7068187A>T NCBI36
NG_007975.1:g.9311A>T
NG_008391.2:g.907T>A
NG_033038.1:g.15401T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1435-2A>T MANE Select ENSP00000349297.5:n.1435-2A>T
ENST00000322910.9:c.*1390-2A>T ENSP00000325395.5:n.*1390-2A>T
ENST00000350303.9:c.1369-2A>T ENSP00000344152.5:n.1369-2A>T
ENST00000356839.9:c.1435-2A>T ENSP00000349297.5:n.1435-2A>T
ENST00000542255.6:c.293-2A>T
ENST00000543245.6:c.1504-2A>T ENSP00000438689.2:n.1504-2A>T
ENST00000578711.1:n.640A>T
ENST00000579391.1:n.41A>T
ENST00000579425.5:n.551-2A>T
ENST00000579546.1:c.271+75A>T
ENST00000579894.5:n.220A>T
ENST00000583074.5:n.153+75A>T
ENST00000583850.5:n.210-2A>T
ENST00000583858.5:c.463+75A>T
ENST00000585203.6:n.626-2A>T
NM_000018.3:c.1435-2A>T NP_000009.1:n.1435-2A>T
NM_001033859.2:c.1369-2A>T NP_001029031.1:n.1369-2A>T
NM_001270447.1:c.1504-2A>T NP_001257376.1:n.1504-2A>T
NM_001270448.1:c.1207-2A>T NP_001257377.1:n.1207-2A>T
XM_006721516.2:c.1435-2A>T XP_006721579.2:n.1435-2A>T
XM_011523829.1:c.1434+75A>T XP_011522131.1:n.1434+75A>T
XM_011523830.1:c.1434+75A>T XP_011522132.1:n.1434+75A>T
XR_934021.1:n.1542-2A>T
XR_934022.1:n.1541+75A>T
XR_934023.1:n.1541+75A>T
XM_006721516.3:c.1435-2A>T XP_006721579.2:n.1435-2A>T
XM_011523829.2:c.1434+75A>T XP_011522131.1:n.1434+75A>T
XM_011523830.2:c.1434+75A>T XP_011522132.1:n.1434+75A>T
XM_024450741.1:c.1434+75A>T XP_024306509.1:n.1434+75A>T
XR_934021.2:n.1494-2A>T
XR_934022.2:n.1493+75A>T
XR_934023.2:n.1493+75A>T
NM_000018.4:c.1435-2A>T MANE Select NP_000009.1:n.1435-2A>T
NM_001033859.3:c.1369-2A>T NP_001029031.1:n.1369-2A>T
NM_001270447.2:c.1504-2A>T NP_001257376.1:n.1504-2A>T
NM_001270448.2:c.1207-2A>T NP_001257377.1:n.1207-2A>T