Canonical Allele Identifier: CA2245700385
Gene: ACADVL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7221652A= , CM000679.2:g.7221652A= GRCh38
NC_000017.10:g.7124971A= , CM000679.1:g.7124971A= GRCh37
NC_000017.9:g.7065695A= NCBI36
NG_007975.1:g.6819A=
NG_008391.2:g.3399T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.592A= MANE Select ENSP00000349297.5:p.Lys198=
ENST00000322910.9:c.*547A= ENSP00000325395.5:n.*547A=
ENST00000350303.9:c.526A= ENSP00000344152.5:p.Lys176=
ENST00000356839.9:c.592A= ENSP00000349297.5:p.Lys198=
ENST00000543245.6:c.661A= ENSP00000438689.2:p.Lys221=
ENST00000577191.5:n.669A=
ENST00000577433.5:n.800A=
ENST00000577857.5:n.408A=
ENST00000579286.5:n.773A=
ENST00000579886.2:c.430A= ENSP00000463246.1:p.Lys144=
ENST00000580365.1:n.323A=
ENST00000581378.5:c.310A=
ENST00000581562.5:n.525-300A=
ENST00000583312.5:c.592A= ENSP00000467920.1:p.Lys198=
ENST00000583760.1:n.374A=
NM_000018.3:c.592A= NP_000009.1:p.Lys198=
NM_001033859.2:c.526A= NP_001029031.1:p.Lys176=
NM_001270447.1:c.661A= NP_001257376.1:p.Lys221=
NM_001270448.1:c.364A= NP_001257377.1:p.Lys122=
XM_006721516.2:c.592A= XP_006721579.2:p.Lys198=
XM_011523829.1:c.592A= XP_011522131.1:p.Lys198=
XM_011523830.1:c.592A= XP_011522132.1:p.Lys198=
XR_934021.1:n.699A=
XR_934022.1:n.699A=
XR_934023.1:n.699A=
XM_006721516.3:c.592A= XP_006721579.2:p.Lys198=
XM_011523829.2:c.592A= XP_011522131.1:p.Lys198=
XM_011523830.2:c.592A= XP_011522132.1:p.Lys198=
XM_024450741.1:c.592A= XP_024306509.1:p.Lys198=
XR_934021.2:n.651A=
XR_934022.2:n.651A=
XR_934023.2:n.651A=
NM_000018.4:c.592A= MANE Select NP_000009.1:p.Lys198=
NM_001033859.3:c.526A= NP_001029031.1:p.Lys176=
NM_001270447.2:c.661A= NP_001257376.1:p.Lys221=
NM_001270448.2:c.364A= NP_001257377.1:p.Lys122=