Canonical Allele Identifier: CA2245712841
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7224069G= , CM000679.2:g.7224069G= GRCh38
NC_000017.10:g.7127388G= , CM000679.1:g.7127388G= GRCh37
NC_000017.9:g.7068112G= NCBI36
NG_007975.1:g.9236G=
NG_008391.2:g.982C=
NG_033038.1:g.15476C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1434G= MANE Select ENSP00000349297.5:p.Met478=
ENST00000322910.9:c.*1389G= ENSP00000325395.5:n.*1389G=
ENST00000350303.9:c.1368G= ENSP00000344152.5:p.Met456=
ENST00000356839.9:c.1434G= ENSP00000349297.5:p.Met478=
ENST00000542255.6:c.292G=
ENST00000543245.6:c.1503G= ENSP00000438689.2:p.Met501=
ENST00000578711.1:n.565G=
ENST00000579425.5:n.550G=
ENST00000579546.1:c.271G=
ENST00000579894.5:n.145G=
ENST00000583074.5:n.153G=
ENST00000583850.5:n.209G=
ENST00000583858.5:c.463G=
ENST00000585203.6:n.625G=
NM_000018.3:c.1434G= NP_000009.1:p.Met478=
NM_001033859.2:c.1368G= NP_001029031.1:p.Met456=
NM_001270447.1:c.1503G= NP_001257376.1:p.Met501=
NM_001270448.1:c.1206G= NP_001257377.1:p.Met402=
XM_006721516.2:c.1434G= XP_006721579.2:p.Met478=
XM_011523829.1:c.1434G= XP_011522131.1:p.Met478=
XM_011523830.1:c.1434G= XP_011522132.1:p.Met478=
XR_934021.1:n.1541G=
XR_934022.1:n.1541G=
XR_934023.1:n.1541G=
XM_006721516.3:c.1434G= XP_006721579.2:p.Met478=
XM_011523829.2:c.1434G= XP_011522131.1:p.Met478=
XM_011523830.2:c.1434G= XP_011522132.1:p.Met478=
XM_024450741.1:c.1434G= XP_024306509.1:p.Met478=
XR_934021.2:n.1493G=
XR_934022.2:n.1493G=
XR_934023.2:n.1493G=
NM_000018.4:c.1434G= MANE Select NP_000009.1:p.Met478=
NM_001033859.3:c.1368G= NP_001029031.1:p.Met456=
NM_001270447.2:c.1503G= NP_001257376.1:p.Met501=
NM_001270448.2:c.1206G= NP_001257377.1:p.Met402=