Canonical Allele Identifier: CA2245714594
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224538A= , CM000679.2:g.7224538A= GRCh38
NC_000017.10:g.7127857A= , CM000679.1:g.7127857A= GRCh37
NC_000017.9:g.7068581A= NCBI36
NG_007975.1:g.9705A=
NG_008391.2:g.513T=
NG_033038.1:g.15007T=

Transcript Alleles

HGVS Amino-acid change
ENST00000356839.10:c.1664A= MANE Select ENSP00000349297.5:p.Lys555=
ENST00000322910.9:c.*1619A= ENSP00000325395.5:n.*1619A=
ENST00000350303.9:c.1598A= ENSP00000344152.5:p.Lys533=
ENST00000356839.9:c.1664A= ENSP00000349297.5:p.Lys555=
ENST00000542255.6:c.522A=
ENST00000543245.6:c.1733A= ENSP00000438689.2:p.Lys578=
ENST00000578319.5:n.245A=
ENST00000578711.1:n.1034A=
ENST00000578809.5:n.236A=
ENST00000579391.1:n.268A=
ENST00000579425.5:n.780A=
ENST00000579546.1:c.399A=
ENST00000582450.1:n.172A=
ENST00000583074.5:n.285A=
ENST00000583848.5:c.50A= ENSP00000466487.1:p.Lys17=
ENST00000583850.5:n.435A=
ENST00000583858.5:c.595A=
ENST00000585203.6:n.855A=
NM_000018.3:c.1664A= NP_000009.1:p.Lys555=
NM_001033859.2:c.1598A= NP_001029031.1:p.Lys533=
NM_001270447.1:c.1733A= NP_001257376.1:p.Lys578=
NM_001270448.1:c.1436A= NP_001257377.1:p.Lys479=
XM_006721516.2:c.1664A= XP_006721579.2:p.Lys555=
XM_011523829.1:c.1562A= XP_011522131.1:p.Lys521=
XM_011523830.1:c.1562A= XP_011522132.1:p.Lys521=
XR_934021.1:n.1767A=
XR_934022.1:n.1673A=
XR_934023.1:n.1673A=
XM_006721516.3:c.1664A= XP_006721579.2:p.Lys555=
XM_011523829.2:c.1562A= XP_011522131.1:p.Lys521=
XM_011523830.2:c.1562A= XP_011522132.1:p.Lys521=
XM_024450741.1:c.1652A= XP_024306509.1:p.Lys551=
XR_934021.2:n.1719A=
XR_934022.2:n.1625A=
XR_934023.2:n.1625A=
NM_000018.4:c.1664A= MANE Select NP_000009.1:p.Lys555=
NM_001033859.3:c.1598A= NP_001029031.1:p.Lys533=
NM_001270447.2:c.1733A= NP_001257376.1:p.Lys578=
NM_001270448.2:c.1436A= NP_001257377.1:p.Lys479=