Canonical Allele Identifier: CA624860724

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 513969
• ClinVar RCV Id: RCV000599752
• dbSNP Id: rs1291717212
• gnomAD v2: 17-7127582-C-G
• gnomAD v4: 17-7224263-C-G
• MyVariant Identifiers: chr17:g.7127582C>G (hg19) ; chr17:g.7224263C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224263C>G , CM000679.2:g.7224263C>G	GRCh38
NC_000017.10:g.7127582C>G , CM000679.1:g.7127582C>G	GRCh37
NC_000017.9:g.7068306C>G	NCBI36
NG_007975.1:g.9430C>G
NG_008391.2:g.788G>C
NG_033038.1:g.15282G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1532+20C>G MANE Select	ENSP00000349297.5:n.1532+20C>G
ENST00000322910.9:c.*1487+20C>G	ENSP00000325395.5:n.*1487+20C>G
ENST00000350303.9:c.1466+20C>G	ENSP00000344152.5:n.1466+20C>G
ENST00000356839.9:c.1532+20C>G	ENSP00000349297.5:n.1532+20C>G
ENST00000542255.6:c.390+20C>G
ENST00000543245.6:c.1601+20C>G	ENSP00000438689.2:n.1601+20C>G
ENST00000578319.5:n.27+20C>G
ENST00000578711.1:n.759C>G
ENST00000578809.5:n.47C>G
ENST00000579391.1:n.140+20C>G
ENST00000579425.5:n.648+20C>G
ENST00000579546.1:c.272-58C>G
ENST00000579894.5:n.319+20C>G
ENST00000583074.5:n.154-58C>G
ENST00000583850.5:n.307+20C>G
ENST00000583858.5:c.464-58C>G
ENST00000585203.6:n.723+20C>G
NM_000018.3:c.1532+20C>G	NP_000009.1:n.1532+20C>G
NM_001033859.2:c.1466+20C>G	NP_001029031.1:n.1466+20C>G
NM_001270447.1:c.1601+20C>G	NP_001257376.1:n.1601+20C>G
NM_001270448.1:c.1304+20C>G	NP_001257377.1:n.1304+20C>G
XM_006721516.2:c.1532+20C>G	XP_006721579.2:n.1532+20C>G
XM_011523829.1:c.1435-58C>G	XP_011522131.1:n.1435-58C>G
XM_011523830.1:c.1435-58C>G	XP_011522132.1:n.1435-58C>G
XR_934021.1:n.1639+20C>G
XR_934022.1:n.1542-58C>G
XR_934023.1:n.1542-58C>G
XM_006721516.3:c.1532+20C>G	XP_006721579.2:n.1532+20C>G
XM_011523829.2:c.1435-58C>G	XP_011522131.1:n.1435-58C>G
XM_011523830.2:c.1435-58C>G	XP_011522132.1:n.1435-58C>G
XM_024450741.1:c.1435-58C>G	XP_024306509.1:n.1435-58C>G
XR_934021.2:n.1591+20C>G
XR_934022.2:n.1494-58C>G
XR_934023.2:n.1494-58C>G
NM_000018.4:c.1532+20C>G MANE Select	NP_000009.1:n.1532+20C>G
NM_001033859.3:c.1466+20C>G	NP_001029031.1:n.1466+20C>G
NM_001270447.2:c.1601+20C>G	NP_001257376.1:n.1601+20C>G
NM_001270448.2:c.1304+20C>G	NP_001257377.1:n.1304+20C>G