Canonical Allele Identifier: CA8337703

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1484255
• ClinVar RCV Id: RCV002005661
• dbSNP Id: rs779650201
• ExAC: 17:7124375 C / G
• gnomAD v2: 17-7124375-C-G
• gnomAD v4: 17-7221056-C-G
• MyVariant Identifiers: chr17:g.7124375C>G (hg19) ; chr17:g.7221056C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221056C>G , CM000679.2:g.7221056C>G	GRCh38
NC_000017.10:g.7124375C>G , CM000679.1:g.7124375C>G	GRCh37
NC_000017.9:g.7065099C>G	NCBI36
NG_007975.1:g.6223C>G
NG_008391.2:g.3995G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.475C>G MANE Select	ENSP00000349297.5:p.Gln159Glu
ENST00000322910.9:c.*430C>G	ENSP00000325395.5:n.*430C>G
ENST00000350303.9:c.409C>G	ENSP00000344152.5:p.Gln137Glu
ENST00000356839.9:c.475C>G	ENSP00000349297.5:p.Gln159Glu
ENST00000543245.6:c.544C>G	ENSP00000438689.2:p.Gln182Glu
ENST00000577191.5:n.552C>G
ENST00000577433.5:n.683C>G
ENST00000577857.5:n.293+226C>G
ENST00000579286.5:n.656C>G
ENST00000579886.2:c.313C>G	ENSP00000463246.1:p.Gln105Glu
ENST00000580365.1:n.206C>G
ENST00000581378.5:c.174C>G
ENST00000581562.5:n.522C>G
ENST00000582056.5:n.658C>G
ENST00000582166.1:n.456C>G
ENST00000583312.5:c.475C>G	ENSP00000467920.1:p.Gln159Glu
NM_000018.3:c.475C>G	NP_000009.1:p.Gln159Glu
NM_001033859.2:c.409C>G	NP_001029031.1:p.Gln137Glu
NM_001270447.1:c.544C>G	NP_001257376.1:p.Gln182Glu
NM_001270448.1:c.247C>G	NP_001257377.1:p.Gln83Glu
XM_006721516.2:c.475C>G	XP_006721579.2:p.Gln159Glu
XM_011523829.1:c.475C>G	XP_011522131.1:p.Gln159Glu
XM_011523830.1:c.475C>G	XP_011522132.1:p.Gln159Glu
XR_934021.1:n.582C>G
XR_934022.1:n.582C>G
XR_934023.1:n.582C>G
XM_006721516.3:c.475C>G	XP_006721579.2:p.Gln159Glu
XM_011523829.2:c.475C>G	XP_011522131.1:p.Gln159Glu
XM_011523830.2:c.475C>G	XP_011522132.1:p.Gln159Glu
XM_024450741.1:c.475C>G	XP_024306509.1:p.Gln159Glu
XR_934021.2:n.534C>G
XR_934022.2:n.534C>G
XR_934023.2:n.534C>G
NM_000018.4:c.475C>G MANE Select	NP_000009.1:p.Gln159Glu
NM_001033859.3:c.409C>G	NP_001029031.1:p.Gln137Glu
NM_001270447.2:c.544C>G	NP_001257376.1:p.Gln182Glu
NM_001270448.2:c.247C>G	NP_001257377.1:p.Gln83Glu