Canonical Allele Identifier: CA2635786733
Gene: ACADVL HGNC NCBI

Linked Data

gnomAD v4: 17-7224784-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224784A>T , CM000679.2:g.7224784A>T GRCh38
NC_000017.10:g.7128103A>T , CM000679.1:g.7128103A>T GRCh37
NC_000017.9:g.7068827A>T NCBI36
NG_007975.1:g.9951A>T
NG_008391.2:g.267T>A
NG_033038.1:g.14761T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1752-25A>T MANE Select ENSP00000349297.5:n.1752-25A>T
ENST00000322910.9:c.*1707-25A>T ENSP00000325395.5:n.*1707-25A>T
ENST00000350303.9:c.1686-25A>T ENSP00000344152.5:n.1686-25A>T
ENST00000356839.9:c.1752-25A>T ENSP00000349297.5:n.1752-25A>T
ENST00000542255.6:c.606A>T
ENST00000543245.6:c.1821-25A>T ENSP00000438689.2:n.1821-25A>T
ENST00000578033.1:n.152A>T
ENST00000578319.5:n.333-25A>T
ENST00000578711.1:n.1280A>T
ENST00000578809.5:n.324-25A>T
ENST00000579425.5:n.868-25A>T
ENST00000579546.1:c.487-25A>T
ENST00000583074.5:n.369A>T
ENST00000583848.5:c.118-25A>T ENSP00000466487.1:n.118-25A>T
ENST00000583850.5:n.523-25A>T
ENST00000583858.5:c.683-25A>T
ENST00000585203.6:n.943-25A>T
NM_000018.3:c.1752-25A>T NP_000009.1:n.1752-25A>T
NM_001033859.2:c.1686-25A>T NP_001029031.1:n.1686-25A>T
NM_001270447.1:c.1821-25A>T NP_001257376.1:n.1821-25A>T
NM_001270448.1:c.1524-25A>T NP_001257377.1:n.1524-25A>T
XM_006721516.2:c.1748A>T XP_006721579.2:p.Tyr583Phe
XM_011523829.1:c.1646A>T XP_011522131.1:p.Tyr549Phe
XM_011523830.1:c.1650-25A>T XP_011522132.1:n.1650-25A>T
XR_934021.1:n.1855-25A>T
XR_934022.1:n.1761-25A>T
XR_934023.1:n.1757A>T
XM_006721516.3:c.1748A>T XP_006721579.2:p.Tyr583Phe
XM_011523829.2:c.1646A>T XP_011522131.1:p.Tyr549Phe
XM_011523830.2:c.1650-25A>T XP_011522132.1:n.1650-25A>T
XM_024450741.1:c.1740-25A>T XP_024306509.1:n.1740-25A>T
XR_934021.2:n.1807-25A>T
XR_934022.2:n.1713-25A>T
XR_934023.2:n.1709A>T
NM_000018.4:c.1752-25A>T MANE Select NP_000009.1:n.1752-25A>T
NM_001033859.3:c.1686-25A>T NP_001029031.1:n.1686-25A>T
NM_001270447.2:c.1821-25A>T NP_001257376.1:n.1821-25A>T
NM_001270448.2:c.1524-25A>T NP_001257377.1:n.1524-25A>T