Canonical Allele Identifier: CA8338234

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 2041085
• ClinVar RCV Id: RCV002912864
• dbSNP Id: rs372452333
• ExAC: 17:7128001 C / G
• gnomAD v2: 17-7128001-C-G
• gnomAD v4: 17-7224682-C-G
• MyVariant Identifiers: chr17:g.7128001C>G (hg19) ; chr17:g.7224682C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224682C>G , CM000679.2:g.7224682C>G	GRCh38
NC_000017.10:g.7128001C>G , CM000679.1:g.7128001C>G	GRCh37
NC_000017.9:g.7068725C>G	NCBI36
NG_007975.1:g.9849C>G
NG_008391.2:g.369G>C
NG_033038.1:g.14863G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1719C>G MANE Select	ENSP00000349297.5:p.Ile573Met
ENST00000322910.9:c.*1674C>G	ENSP00000325395.5:n.*1674C>G
ENST00000350303.9:c.1653C>G	ENSP00000344152.5:p.Ile551Met
ENST00000356839.9:c.1719C>G	ENSP00000349297.5:p.Ile573Met
ENST00000542255.6:c.537-33C>G
ENST00000543245.6:c.1788C>G	ENSP00000438689.2:p.Ile596Met
ENST00000578033.1:n.50C>G
ENST00000578319.5:n.300C>G
ENST00000578711.1:n.1178C>G
ENST00000578809.5:n.291C>G
ENST00000579425.5:n.835C>G
ENST00000579546.1:c.454C>G
ENST00000583074.5:n.300-33C>G
ENST00000583848.5:c.85C>G	ENSP00000466487.1:p.Arg29Gly
ENST00000583850.5:n.490C>G
ENST00000583858.5:c.650C>G
ENST00000585203.6:n.910C>G
NM_000018.3:c.1719C>G	NP_000009.1:p.Ile573Met
NM_001033859.2:c.1653C>G	NP_001029031.1:p.Ile551Met
NM_001270447.1:c.1788C>G	NP_001257376.1:p.Ile596Met
NM_001270448.1:c.1491C>G	NP_001257377.1:p.Ile497Met
XM_006721516.2:c.1679-33C>G	XP_006721579.2:n.1679-33C>G
XM_011523829.1:c.1577-33C>G	XP_011522131.1:n.1577-33C>G
XM_011523830.1:c.1617C>G	XP_011522132.1:p.Ile539Met
XR_934021.1:n.1822C>G
XR_934022.1:n.1728C>G
XR_934023.1:n.1688-33C>G
XM_006721516.3:c.1679-33C>G	XP_006721579.2:n.1679-33C>G
XM_011523829.2:c.1577-33C>G	XP_011522131.1:n.1577-33C>G
XM_011523830.2:c.1617C>G	XP_011522132.1:p.Ile539Met
XM_024450741.1:c.1707C>G	XP_024306509.1:p.Ile569Met
XR_934021.2:n.1774C>G
XR_934022.2:n.1680C>G
XR_934023.2:n.1640-33C>G
NM_000018.4:c.1719C>G MANE Select	NP_000009.1:p.Ile573Met
NM_001033859.3:c.1653C>G	NP_001029031.1:p.Ile551Met
NM_001270447.2:c.1788C>G	NP_001257376.1:p.Ile596Met
NM_001270448.2:c.1491C>G	NP_001257377.1:p.Ile497Met