Canonical Allele Identifier: CA2245701850
Gene: ACADVL HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222332G= , CM000679.2:g.7222332G= GRCh38
NC_000017.10:g.7125651G= , CM000679.1:g.7125651G= GRCh37
NC_000017.9:g.7066375G= NCBI36
NG_007975.1:g.7499G=
NG_008391.2:g.2719C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.878+30G= MANE Select ENSP00000349297.5:n.878+30G=
ENST00000322910.9:c.*833+30G= ENSP00000325395.5:n.*833+30G=
ENST00000350303.9:c.812+30G= ENSP00000344152.5:n.812+30G=
ENST00000356839.9:c.878+30G= ENSP00000349297.5:n.878+30G=
ENST00000543245.6:c.947+30G= ENSP00000438689.2:n.947+30G=
ENST00000577191.5:n.1080G=
ENST00000581378.5:c.596+30G=
ENST00000582379.1:n.262+30G=
NM_000018.3:c.878+30G= NP_000009.1:n.878+30G=
NM_001033859.2:c.812+30G= NP_001029031.1:n.812+30G=
NM_001270447.1:c.947+30G= NP_001257376.1:n.947+30G=
NM_001270448.1:c.650+30G= NP_001257377.1:n.650+30G=
XM_006721516.2:c.878+30G= XP_006721579.2:n.878+30G=
XM_011523829.1:c.878+30G= XP_011522131.1:n.878+30G=
XM_011523830.1:c.878+30G= XP_011522132.1:n.878+30G=
XR_934021.1:n.985+30G=
XR_934022.1:n.985+30G=
XR_934023.1:n.985+30G=
XM_006721516.3:c.878+30G= XP_006721579.2:n.878+30G=
XM_011523829.2:c.878+30G= XP_011522131.1:n.878+30G=
XM_011523830.2:c.878+30G= XP_011522132.1:n.878+30G=
XM_024450741.1:c.878+30G= XP_024306509.1:n.878+30G=
XR_934021.2:n.937+30G=
XR_934022.2:n.937+30G=
XR_934023.2:n.937+30G=
NM_000018.4:c.878+30G= MANE Select NP_000009.1:n.878+30G=
NM_001033859.3:c.812+30G= NP_001029031.1:n.812+30G=
NM_001270447.2:c.947+30G= NP_001257376.1:n.947+30G=
NM_001270448.2:c.650+30G= NP_001257377.1:n.650+30G=
Search 100 bp 5'
Search 100 bp 3'