Canonical Allele Identifier: CA2245697473
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7220075C= , CM000679.2:g.7220075C= GRCh38
NC_000017.10:g.7123394C= , CM000679.1:g.7123394C= GRCh37
NC_000017.9:g.7064118C= NCBI36
NG_007975.1:g.5242C=
NG_008391.2:g.4976G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.62+29C= MANE Select ENSP00000349297.5:n.62+29C=
ENST00000322910.9:c.91C= ENSP00000325395.5:p.Gln31=
ENST00000350303.9:c.62+29C= ENSP00000344152.5:n.62+29C=
ENST00000356839.9:c.62+29C= ENSP00000349297.5:n.62+29C=
ENST00000543245.6:c.132-47C= ENSP00000438689.2:n.132-47C=
ENST00000577191.5:n.139+29C=
ENST00000577857.5:n.152+29C=
ENST00000578269.5:n.169+29C=
ENST00000578421.1:n.150C=
ENST00000579286.5:n.169+29C=
ENST00000579886.2:c.62+29C= ENSP00000463246.1:n.62+29C=
ENST00000580263.5:n.152+29C=
ENST00000581562.5:n.109+29C=
ENST00000582056.5:n.152+29C=
ENST00000582356.5:n.187+29C=
ENST00000583312.5:c.62+29C= ENSP00000467920.1:n.62+29C=
ENST00000584103.5:c.62+29C= ENSP00000465353.1:n.62+29C=
NM_000018.3:c.62+29C= NP_000009.1:n.62+29C=
NM_001033859.2:c.62+29C= NP_001029031.1:n.62+29C=
NM_001270447.1:c.132-47C= NP_001257376.1:n.132-47C=
NM_001270448.1:c.-213C= NP_001257377.1:n.-213C=
XM_006721516.2:c.62+29C= XP_006721579.2:n.62+29C=
XM_011523829.1:c.62+29C= XP_011522131.1:n.62+29C=
XM_011523830.1:c.62+29C= XP_011522132.1:n.62+29C=
XR_934021.1:n.169+29C=
XR_934022.1:n.169+29C=
XR_934023.1:n.169+29C=
XM_006721516.3:c.62+29C= XP_006721579.2:n.62+29C=
XM_011523829.2:c.62+29C= XP_011522131.1:n.62+29C=
XM_011523830.2:c.62+29C= XP_011522132.1:n.62+29C=
XM_024450741.1:c.62+29C= XP_024306509.1:n.62+29C=
XR_934021.2:n.121+29C=
XR_934022.2:n.121+29C=
XR_934023.2:n.121+29C=
NM_000018.4:c.62+29C= MANE Select NP_000009.1:n.62+29C=
NM_001033859.3:c.62+29C= NP_001029031.1:n.62+29C=
NM_001270447.2:c.132-47C= NP_001257376.1:n.132-47C=
NM_001270448.2:c.-213C= NP_001257377.1:n.-213C=