Canonical Allele Identifier: CA2245716118
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224982T= , CM000679.2:g.7224982T= GRCh38
NC_000017.10:g.7128301T= , CM000679.1:g.7128301T= GRCh37
NC_000017.9:g.7069025T= NCBI36
NG_007975.1:g.10149T=
NG_008391.2:g.69A=
NG_033038.1:g.14563A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1853T= MANE Select ENSP00000349297.5:p.Met618=
ENST00000322910.9:c.*1808T= ENSP00000325395.5:n.*1808T=
ENST00000350303.9:c.1787T= ENSP00000344152.5:p.Met596=
ENST00000356839.9:c.1853T= ENSP00000349297.5:p.Met618=
ENST00000542255.6:c.732T=
ENST00000543245.6:c.1922T= ENSP00000438689.2:p.Met641=
ENST00000578033.1:n.278T=
ENST00000578319.5:n.434T=
ENST00000578711.1:n.1478T=
ENST00000578809.5:n.425T=
ENST00000579425.5:n.969T=
ENST00000583848.5:c.219T= ENSP00000466487.1:n.219T=
ENST00000583850.5:n.624T=
ENST00000583858.5:c.784T=
NM_000018.3:c.1853T= NP_000009.1:p.Met618=
NM_001033859.2:c.1787T= NP_001029031.1:p.Met596=
NM_001270447.1:c.1922T= NP_001257376.1:p.Met641=
NM_001270448.1:c.1625T= NP_001257377.1:p.Met542=
XM_006721516.2:c.1874T= XP_006721579.2:p.Met625=
XM_011523829.1:c.1772T= XP_011522131.1:p.Met591=
XM_011523830.1:c.1751T= XP_011522132.1:p.Met584=
XR_934021.1:n.1956T=
XR_934022.1:n.1862T=
XR_934023.1:n.1883T=
XM_006721516.3:c.1874T= XP_006721579.2:p.Met625=
XM_011523829.2:c.1772T= XP_011522131.1:p.Met591=
XM_011523830.2:c.1751T= XP_011522132.1:p.Met584=
XM_024450741.1:c.1841T= XP_024306509.1:p.Met614=
XR_934021.2:n.1908T=
XR_934022.2:n.1814T=
XR_934023.2:n.1835T=
NM_000018.4:c.1853T= MANE Select NP_000009.1:p.Met618=
NM_001033859.3:c.1787T= NP_001029031.1:p.Met596=
NM_001270447.2:c.1922T= NP_001257376.1:p.Met641=
NM_001270448.2:c.1625T= NP_001257377.1:p.Met542=