Canonical Allele Identifier: CA2245711457
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223657T= , CM000679.2:g.7223657T= GRCh38
NC_000017.10:g.7126976T= , CM000679.1:g.7126976T= GRCh37
NC_000017.9:g.7067700T= NCBI36
NG_007975.1:g.8824T=
NG_008391.2:g.1394A=
NG_033038.1:g.15888A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1196T= MANE Select ENSP00000349297.5:p.Met399=
ENST00000322910.9:c.*1151T= ENSP00000325395.5:n.*1151T=
ENST00000350303.9:c.1130T= ENSP00000344152.5:p.Met377=
ENST00000356839.9:c.1196T= ENSP00000349297.5:p.Met399=
ENST00000542255.6:c.54T=
ENST00000543245.6:c.1265T= ENSP00000438689.2:p.Met422=
ENST00000578579.2:n.367T=
ENST00000578711.1:n.153T=
ENST00000578824.5:n.612T=
ENST00000579425.5:n.220T=
ENST00000579546.1:c.33T=
ENST00000583858.5:c.225T=
ENST00000585203.6:n.404T=
NM_000018.3:c.1196T= NP_000009.1:p.Met399=
NM_001033859.2:c.1130T= NP_001029031.1:p.Met377=
NM_001270447.1:c.1265T= NP_001257376.1:p.Met422=
NM_001270448.1:c.968T= NP_001257377.1:p.Met323=
XM_006721516.2:c.1196T= XP_006721579.2:p.Met399=
XM_011523829.1:c.1196T= XP_011522131.1:p.Met399=
XM_011523830.1:c.1196T= XP_011522132.1:p.Met399=
XR_934021.1:n.1303T=
XR_934022.1:n.1303T=
XR_934023.1:n.1303T=
XM_006721516.3:c.1196T= XP_006721579.2:p.Met399=
XM_011523829.2:c.1196T= XP_011522131.1:p.Met399=
XM_011523830.2:c.1196T= XP_011522132.1:p.Met399=
XM_024450741.1:c.1196T= XP_024306509.1:p.Met399=
XR_934021.2:n.1255T=
XR_934022.2:n.1255T=
XR_934023.2:n.1255T=
NM_000018.4:c.1196T= MANE Select NP_000009.1:p.Met399=
NM_001033859.3:c.1130T= NP_001029031.1:p.Met377=
NM_001270447.2:c.1265T= NP_001257376.1:p.Met422=
NM_001270448.2:c.968T= NP_001257377.1:p.Met323=