Canonical Allele Identifier: CA8337932
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 2058739
ClinVar RCV Id: RCV002952436
dbSNP Id: rs146589640
gnomAD v3: 17-7222860-A-G
gnomAD v4: 17-7222860-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7222860A>G , CM000679.2:g.7222860A>G GRCh38
NC_000017.10:g.7126179A>G , CM000679.1:g.7126179A>G GRCh37
NC_000017.9:g.7066903A>G NCBI36
NG_007975.1:g.8027A>G
NG_008391.2:g.2191T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1072A>G MANE Select ENSP00000349297.5:p.Lys358Glu
ENST00000322910.9:c.*1027A>G ENSP00000325395.5:n.*1027A>G
ENST00000350303.9:c.1006A>G ENSP00000344152.5:p.Lys336Glu
ENST00000356839.9:c.1072A>G ENSP00000349297.5:p.Lys358Glu
ENST00000543245.6:c.1141A>G ENSP00000438689.2:p.Lys381Glu
ENST00000578824.5:n.221A>G
ENST00000582379.1:n.456A>G
ENST00000583858.5:c.101A>G
ENST00000585203.6:n.13A>G
NM_000018.3:c.1072A>G NP_000009.1:p.Lys358Glu
NM_001033859.2:c.1006A>G NP_001029031.1:p.Lys336Glu
NM_001270447.1:c.1141A>G NP_001257376.1:p.Lys381Glu
NM_001270448.1:c.844A>G NP_001257377.1:p.Lys282Glu
XM_006721516.2:c.1072A>G XP_006721579.2:p.Lys358Glu
XM_011523829.1:c.1072A>G XP_011522131.1:p.Lys358Glu
XM_011523830.1:c.1072A>G XP_011522132.1:p.Lys358Glu
XR_934021.1:n.1179A>G
XR_934022.1:n.1179A>G
XR_934023.1:n.1179A>G
XM_006721516.3:c.1072A>G XP_006721579.2:p.Lys358Glu
XM_011523829.2:c.1072A>G XP_011522131.1:p.Lys358Glu
XM_011523830.2:c.1072A>G XP_011522132.1:p.Lys358Glu
XM_024450741.1:c.1072A>G XP_024306509.1:p.Lys358Glu
XR_934021.2:n.1131A>G
XR_934022.2:n.1131A>G
XR_934023.2:n.1131A>G
NM_000018.4:c.1072A>G MANE Select NP_000009.1:p.Lys358Glu
NM_001033859.3:c.1006A>G NP_001029031.1:p.Lys336Glu
NM_001270447.2:c.1141A>G NP_001257376.1:p.Lys381Glu
NM_001270448.2:c.844A>G NP_001257377.1:p.Lys282Glu