Canonical Allele Identifier: CA2245699181
Community Standard Title: NM_000018.4(ACADVL):c.364A= (p.Asn122=)
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7220945A= , CM000679.2:g.7220945A= GRCh38
NC_000017.10:g.7124264A= , CM000679.1:g.7124264A= GRCh37
NC_000017.9:g.7064988A= NCBI36
NG_007975.1:g.6112A=
NG_008391.2:g.4106T=

Transcript Alleles

HGVS Amino-acid Change
NM_000018.4:c.364A= MANE Select NP_000009.1:p.Asn122=
ENST00000356839.10:c.364A= MANE Select ENSP00000349297.5:p.Asn122=
NM_000018.3:c.364A= NP_000009.1:p.Asn122=
NM_001033859.2:c.298A= NP_001029031.1:p.Asn100=
NM_001033859.3:c.298A= NP_001029031.1:p.Asn100=
NM_001270447.1:c.433A= NP_001257376.1:p.Asn145=
NM_001270447.2:c.433A= NP_001257376.1:p.Asn145=
NM_001270448.1:c.136A= NP_001257377.1:p.Asn46=
NM_001270448.2:c.136A= NP_001257377.1:p.Asn46=
ENST00000322910.9:c.*319A= ENSP00000325395.5:n.*319A=
ENST00000350303.9:c.298A= ENSP00000344152.5:p.Asn100=
ENST00000356839.9:c.364A= ENSP00000349297.5:p.Asn122=
ENST00000543245.6:c.433A= ENSP00000438689.2:p.Asn145=
ENST00000577191.5:n.441A=
ENST00000577433.5:n.572A=
ENST00000577857.5:n.293+115A=
ENST00000579286.5:n.545A=
ENST00000579886.2:c.202A= ENSP00000463246.1:p.Asn68=
ENST00000580365.1:n.95A=
ENST00000581378.5:c.63A=
ENST00000581562.5:n.411A=
ENST00000582056.5:n.547A=
ENST00000582166.1:n.345A=
ENST00000583312.5:c.364A= ENSP00000467920.1:p.Asn122=
ENST00000584103.5:c.397A= ENSP00000465353.1:p.Asn133=
XM_006721516.2:c.364A= XP_006721579.2:p.Asn122=
XM_006721516.3:c.364A= XP_006721579.2:p.Asn122=
XM_011523829.1:c.364A= XP_011522131.1:p.Asn122=
XM_011523829.2:c.364A= XP_011522131.1:p.Asn122=
XM_011523830.1:c.364A= XP_011522132.1:p.Asn122=
XM_011523830.2:c.364A= XP_011522132.1:p.Asn122=
XM_024450741.1:c.364A= XP_024306509.1:p.Asn122=
XR_934021.1:n.471A=
XR_934021.2:n.423A=
XR_934022.1:n.471A=
XR_934022.2:n.423A=
XR_934023.1:n.471A=
XR_934023.2:n.423A=