Canonical Allele Identifier: CA397724872

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7223868-T-G
• MyVariant Identifiers: chr17:g.7127187T>G (hg19) ; chr17:g.7223868T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223868T>G , CM000679.2:g.7223868T>G	GRCh38
NC_000017.10:g.7127187T>G , CM000679.1:g.7127187T>G	GRCh37
NC_000017.9:g.7067911T>G	NCBI36
NG_007975.1:g.9035T>G
NG_008391.2:g.1183A>C
NG_033038.1:g.15677A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1325T>G MANE Select	ENSP00000349297.5:p.Phe442Cys
ENST00000322910.9:c.*1280T>G	ENSP00000325395.5:n.*1280T>G
ENST00000350303.9:c.1259T>G	ENSP00000344152.5:p.Phe420Cys
ENST00000356839.9:c.1325T>G	ENSP00000349297.5:p.Phe442Cys
ENST00000542255.6:c.183T>G
ENST00000543245.6:c.1394T>G	ENSP00000438689.2:p.Phe465Cys
ENST00000578711.1:n.364T>G
ENST00000579425.5:n.349T>G
ENST00000579546.1:c.162T>G
ENST00000583074.5:n.44T>G
ENST00000583850.5:n.100T>G
ENST00000583858.5:c.354T>G
ENST00000585203.6:n.523+10T>G
NM_000018.3:c.1325T>G	NP_000009.1:p.Phe442Cys
NM_001033859.2:c.1259T>G	NP_001029031.1:p.Phe420Cys
NM_001270447.1:c.1394T>G	NP_001257376.1:p.Phe465Cys
NM_001270448.1:c.1097T>G	NP_001257377.1:p.Phe366Cys
XM_006721516.2:c.1325T>G	XP_006721579.2:p.Phe442Cys
XM_011523829.1:c.1325T>G	XP_011522131.1:p.Phe442Cys
XM_011523830.1:c.1325T>G	XP_011522132.1:p.Phe442Cys
XR_934021.1:n.1432T>G
XR_934022.1:n.1432T>G
XR_934023.1:n.1432T>G
XM_006721516.3:c.1325T>G	XP_006721579.2:p.Phe442Cys
XM_011523829.2:c.1325T>G	XP_011522131.1:p.Phe442Cys
XM_011523830.2:c.1325T>G	XP_011522132.1:p.Phe442Cys
XM_024450741.1:c.1325T>G	XP_024306509.1:p.Phe442Cys
XR_934021.2:n.1384T>G
XR_934022.2:n.1384T>G
XR_934023.2:n.1384T>G
NM_000018.4:c.1325T>G MANE Select	NP_000009.1:p.Phe442Cys
NM_001033859.3:c.1259T>G	NP_001029031.1:p.Phe420Cys
NM_001270447.2:c.1394T>G	NP_001257376.1:p.Phe465Cys
NM_001270448.2:c.1097T>G	NP_001257377.1:p.Phe366Cys