Canonical Allele Identifier: CA287434978

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 753229
• ClinVar RCV Id: RCV000930448
• dbSNP Id: rs537031882
• gnomAD v3: 17-7220824-C-T
• gnomAD v4: 17-7220824-C-T
• MyVariant Identifiers: chr17:g.7124143C>T (hg19) ; chr17:g.7220824C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220824C>T , CM000679.2:g.7220824C>T	GRCh38
NC_000017.10:g.7124143C>T , CM000679.1:g.7124143C>T	GRCh37
NC_000017.9:g.7064867C>T	NCBI36
NG_007975.1:g.5991C>T
NG_008391.2:g.4227G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.336C>T MANE Select	ENSP00000349297.5:p.Phe112=
ENST00000322910.9:c.*291C>T	ENSP00000325395.5:n.*291C>T
ENST00000350303.9:c.270C>T	ENSP00000344152.5:p.Phe90=
ENST00000356839.9:c.336C>T	ENSP00000349297.5:p.Phe112=
ENST00000543245.6:c.405C>T	ENSP00000438689.2:p.Phe135=
ENST00000577191.5:n.413C>T
ENST00000577433.5:n.544C>T
ENST00000577857.5:n.287C>T
ENST00000579286.5:n.517C>T
ENST00000579886.2:c.202-121C>T	ENSP00000463246.1:n.202-121C>T
ENST00000580365.1:n.67C>T
ENST00000581378.5:c.35C>T
ENST00000581562.5:n.383C>T
ENST00000582056.5:n.426C>T
ENST00000582166.1:n.224C>T
ENST00000582356.5:n.535C>T
ENST00000583312.5:c.336C>T	ENSP00000467920.1:p.Phe112=
ENST00000584103.5:c.336C>T	ENSP00000465353.1:p.Phe112=
NM_000018.3:c.336C>T	NP_000009.1:p.Phe112=
NM_001033859.2:c.270C>T	NP_001029031.1:p.Phe90=
NM_001270447.1:c.405C>T	NP_001257376.1:p.Phe135=
NM_001270448.1:c.108C>T	NP_001257377.1:p.Phe36=
XM_006721516.2:c.336C>T	XP_006721579.2:p.Phe112=
XM_011523829.1:c.336C>T	XP_011522131.1:p.Phe112=
XM_011523830.1:c.336C>T	XP_011522132.1:p.Phe112=
XR_934021.1:n.443C>T
XR_934022.1:n.443C>T
XR_934023.1:n.443C>T
XM_006721516.3:c.336C>T	XP_006721579.2:p.Phe112=
XM_011523829.2:c.336C>T	XP_011522131.1:p.Phe112=
XM_011523830.2:c.336C>T	XP_011522132.1:p.Phe112=
XM_024450741.1:c.336C>T	XP_024306509.1:p.Phe112=
XR_934021.2:n.395C>T
XR_934022.2:n.395C>T
XR_934023.2:n.395C>T
NM_000018.4:c.336C>T MANE Select	NP_000009.1:p.Phe112=
NM_001033859.3:c.270C>T	NP_001029031.1:p.Phe90=
NM_001270447.2:c.405C>T	NP_001257376.1:p.Phe135=
NM_001270448.2:c.108C>T	NP_001257377.1:p.Phe36=