Canonical Allele Identifier: CA397723575
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 2137891
ClinVar RCV Id: RCV003041270

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222069A>C , CM000679.2:g.7222069A>C GRCh38
NC_000017.10:g.7125388A>C , CM000679.1:g.7125388A>C GRCh37
NC_000017.9:g.7066112A>C NCBI36
NG_007975.1:g.7236A>C
NG_008391.2:g.2982T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.740A>C MANE Select ENSP00000349297.5:p.Lys247Thr
ENST00000322910.9:c.*695A>C ENSP00000325395.5:n.*695A>C
ENST00000350303.9:c.674A>C ENSP00000344152.5:p.Lys225Thr
ENST00000356839.9:c.740A>C ENSP00000349297.5:p.Lys247Thr
ENST00000543245.6:c.809A>C ENSP00000438689.2:p.Lys270Thr
ENST00000577191.5:n.817A>C
ENST00000577857.5:n.556A>C
ENST00000579286.5:n.921A>C
ENST00000580365.1:n.471A>C
ENST00000581378.5:c.458A>C
ENST00000582379.1:n.124A>C
ENST00000583760.1:n.522A>C
NM_000018.3:c.740A>C NP_000009.1:p.Lys247Thr
NM_001033859.2:c.674A>C NP_001029031.1:p.Lys225Thr
NM_001270447.1:c.809A>C NP_001257376.1:p.Lys270Thr
NM_001270448.1:c.512A>C NP_001257377.1:p.Lys171Thr
XM_006721516.2:c.740A>C XP_006721579.2:p.Lys247Thr
XM_011523829.1:c.740A>C XP_011522131.1:p.Lys247Thr
XM_011523830.1:c.740A>C XP_011522132.1:p.Lys247Thr
XR_934021.1:n.847A>C
XR_934022.1:n.847A>C
XR_934023.1:n.847A>C
XM_006721516.3:c.740A>C XP_006721579.2:p.Lys247Thr
XM_011523829.2:c.740A>C XP_011522131.1:p.Lys247Thr
XM_011523830.2:c.740A>C XP_011522132.1:p.Lys247Thr
XM_024450741.1:c.740A>C XP_024306509.1:p.Lys247Thr
XR_934021.2:n.799A>C
XR_934022.2:n.799A>C
XR_934023.2:n.799A>C
NM_000018.4:c.740A>C MANE Select NP_000009.1:p.Lys247Thr
NM_001033859.3:c.674A>C NP_001029031.1:p.Lys225Thr
NM_001270447.2:c.809A>C NP_001257376.1:p.Lys270Thr
NM_001270448.2:c.512A>C NP_001257377.1:p.Lys171Thr