Canonical Allele Identifier: CA2245700338
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221639C= , CM000679.2:g.7221639C= GRCh38
NC_000017.10:g.7124958C= , CM000679.1:g.7124958C= GRCh37
NC_000017.9:g.7065682C= NCBI36
NG_007975.1:g.6806C=
NG_008391.2:g.3412G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.579C= MANE Select ENSP00000349297.5:p.Gly193=
ENST00000322910.9:c.*534C= ENSP00000325395.5:n.*534C=
ENST00000350303.9:c.513C= ENSP00000344152.5:p.Gly171=
ENST00000356839.9:c.579C= ENSP00000349297.5:p.Gly193=
ENST00000543245.6:c.648C= ENSP00000438689.2:p.Gly216=
ENST00000577191.5:n.656C=
ENST00000577433.5:n.787C=
ENST00000577857.5:n.395C=
ENST00000579286.5:n.760C=
ENST00000579886.2:c.417C= ENSP00000463246.1:p.Gly139=
ENST00000580365.1:n.310C=
ENST00000581378.5:c.297C=
ENST00000581562.5:n.525-313C=
ENST00000583312.5:c.579C= ENSP00000467920.1:p.Gly193=
ENST00000583760.1:n.361C=
NM_000018.3:c.579C= NP_000009.1:p.Gly193=
NM_001033859.2:c.513C= NP_001029031.1:p.Gly171=
NM_001270447.1:c.648C= NP_001257376.1:p.Gly216=
NM_001270448.1:c.351C= NP_001257377.1:p.Gly117=
XM_006721516.2:c.579C= XP_006721579.2:p.Gly193=
XM_011523829.1:c.579C= XP_011522131.1:p.Gly193=
XM_011523830.1:c.579C= XP_011522132.1:p.Gly193=
XR_934021.1:n.686C=
XR_934022.1:n.686C=
XR_934023.1:n.686C=
XM_006721516.3:c.579C= XP_006721579.2:p.Gly193=
XM_011523829.2:c.579C= XP_011522131.1:p.Gly193=
XM_011523830.2:c.579C= XP_011522132.1:p.Gly193=
XM_024450741.1:c.579C= XP_024306509.1:p.Gly193=
XR_934021.2:n.638C=
XR_934022.2:n.638C=
XR_934023.2:n.638C=
NM_000018.4:c.579C= MANE Select NP_000009.1:p.Gly193=
NM_001033859.3:c.513C= NP_001029031.1:p.Gly171=
NM_001270447.2:c.648C= NP_001257376.1:p.Gly216=
NM_001270448.2:c.351C= NP_001257377.1:p.Gly117=