Canonical Allele Identifier: CA2245700232
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221606G= , CM000679.2:g.7221606G= GRCh38
NC_000017.10:g.7124925G= , CM000679.1:g.7124925G= GRCh37
NC_000017.9:g.7065649G= NCBI36
NG_007975.1:g.6773G=
NG_008391.2:g.3445C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.546G= MANE Select ENSP00000349297.5:p.Gln182=
ENST00000322910.9:c.*501G= ENSP00000325395.5:n.*501G=
ENST00000350303.9:c.480G= ENSP00000344152.5:p.Gln160=
ENST00000356839.9:c.546G= ENSP00000349297.5:p.Gln182=
ENST00000543245.6:c.615G= ENSP00000438689.2:p.Gln205=
ENST00000577191.5:n.623G=
ENST00000577433.5:n.754G=
ENST00000577857.5:n.362G=
ENST00000579286.5:n.727G=
ENST00000579886.2:c.384G= ENSP00000463246.1:p.Gln128=
ENST00000580365.1:n.277G=
ENST00000581378.5:c.264G=
ENST00000581562.5:n.525-346G=
ENST00000582166.1:n.527G=
ENST00000583312.5:c.546G= ENSP00000467920.1:p.Gln182=
ENST00000583760.1:n.328G=
NM_000018.3:c.546G= NP_000009.1:p.Gln182=
NM_001033859.2:c.480G= NP_001029031.1:p.Gln160=
NM_001270447.1:c.615G= NP_001257376.1:p.Gln205=
NM_001270448.1:c.318G= NP_001257377.1:p.Gln106=
XM_006721516.2:c.546G= XP_006721579.2:p.Gln182=
XM_011523829.1:c.546G= XP_011522131.1:p.Gln182=
XM_011523830.1:c.546G= XP_011522132.1:p.Gln182=
XR_934021.1:n.653G=
XR_934022.1:n.653G=
XR_934023.1:n.653G=
XM_006721516.3:c.546G= XP_006721579.2:p.Gln182=
XM_011523829.2:c.546G= XP_011522131.1:p.Gln182=
XM_011523830.2:c.546G= XP_011522132.1:p.Gln182=
XM_024450741.1:c.546G= XP_024306509.1:p.Gln182=
XR_934021.2:n.605G=
XR_934022.2:n.605G=
XR_934023.2:n.605G=
NM_000018.4:c.546G= MANE Select NP_000009.1:p.Gln182=
NM_001033859.3:c.480G= NP_001029031.1:p.Gln160=
NM_001270447.2:c.615G= NP_001257376.1:p.Gln205=
NM_001270448.2:c.318G= NP_001257377.1:p.Gln106=