Canonical Allele Identifier: CA8338033
Gene: ACADVL HGNC NCBI

Linked Data

ClinVar Variation Id: 567061
dbSNP Id: rs750441118
gnomAD v4: 17-7223637-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.7223637A>G , CM000679.2:g.7223637A>G GRCh38
NC_000017.10:g.7126956A>G , CM000679.1:g.7126956A>G GRCh37
NC_000017.9:g.7067680A>G NCBI36
NG_007975.1:g.8804A>G
NG_008391.2:g.1414T>C
NG_033038.1:g.15908T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000356839.10:c.1183-7A>G MANE Select ENSP00000349297.5:n.1183-7A>G
ENST00000322910.9:c.*1138-7A>G ENSP00000325395.5:n.*1138-7A>G
ENST00000350303.9:c.1117-7A>G ENSP00000344152.5:n.1117-7A>G
ENST00000356839.9:c.1183-7A>G ENSP00000349297.5:n.1183-7A>G
ENST00000542255.6:c.41-7A>G
ENST00000543245.6:c.1252-7A>G ENSP00000438689.2:n.1252-7A>G
ENST00000578579.2:n.347A>G
ENST00000578711.1:n.133A>G
ENST00000578824.5:n.599-7A>G
ENST00000579425.5:n.207-7A>G
ENST00000579546.1:c.20-7A>G
ENST00000583858.5:c.212-7A>G
ENST00000585203.6:n.391-7A>G
NM_000018.3:c.1183-7A>G NP_000009.1:n.1183-7A>G
NM_001033859.2:c.1117-7A>G NP_001029031.1:n.1117-7A>G
NM_001270447.1:c.1252-7A>G NP_001257376.1:n.1252-7A>G
NM_001270448.1:c.955-7A>G NP_001257377.1:n.955-7A>G
XM_006721516.2:c.1183-7A>G XP_006721579.2:n.1183-7A>G
XM_011523829.1:c.1183-7A>G XP_011522131.1:n.1183-7A>G
XM_011523830.1:c.1183-7A>G XP_011522132.1:n.1183-7A>G
XR_934021.1:n.1290-7A>G
XR_934022.1:n.1290-7A>G
XR_934023.1:n.1290-7A>G
XM_006721516.3:c.1183-7A>G XP_006721579.2:n.1183-7A>G
XM_011523829.2:c.1183-7A>G XP_011522131.1:n.1183-7A>G
XM_011523830.2:c.1183-7A>G XP_011522132.1:n.1183-7A>G
XM_024450741.1:c.1183-7A>G XP_024306509.1:n.1183-7A>G
XR_934021.2:n.1242-7A>G
XR_934022.2:n.1242-7A>G
XR_934023.2:n.1242-7A>G
NM_000018.4:c.1183-7A>G MANE Select NP_000009.1:n.1183-7A>G
NM_001033859.3:c.1117-7A>G NP_001029031.1:n.1117-7A>G
NM_001270447.2:c.1252-7A>G NP_001257376.1:n.1252-7A>G
NM_001270448.2:c.955-7A>G NP_001257377.1:n.955-7A>G