Canonical Allele Identifier: CA287435233

Gene: ACADVL

Linked Data

• dbSNP Id: rs890165294
• gnomAD v4: 17-7220929-G-T
• MyVariant Identifiers: chr17:g.7124248G>T (hg19) ; chr17:g.7220929G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220929G>T , CM000679.2:g.7220929G>T	GRCh38
NC_000017.10:g.7124248G>T , CM000679.1:g.7124248G>T	GRCh37
NC_000017.9:g.7064972G>T	NCBI36
NG_007975.1:g.6096G>T
NG_008391.2:g.4122C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.348G>T MANE Select	ENSP00000349297.5:p.Val116=
ENST00000322910.9:c.*303G>T	ENSP00000325395.5:n.*303G>T
ENST00000350303.9:c.282G>T	ENSP00000344152.5:p.Val94=
ENST00000356839.9:c.348G>T	ENSP00000349297.5:p.Val116=
ENST00000543245.6:c.417G>T	ENSP00000438689.2:p.Val139=
ENST00000577191.5:n.425G>T
ENST00000577433.5:n.556G>T
ENST00000577857.5:n.293+99G>T
ENST00000579286.5:n.529G>T
ENST00000579886.2:c.202-16G>T	ENSP00000463246.1:n.202-16G>T
ENST00000580365.1:n.79G>T
ENST00000581378.5:c.47G>T
ENST00000581562.5:n.395G>T
ENST00000582056.5:n.531G>T
ENST00000582166.1:n.329G>T
ENST00000583312.5:c.348G>T	ENSP00000467920.1:p.Val116=
ENST00000584103.5:c.381G>T	ENSP00000465353.1:p.Val127=
NM_000018.3:c.348G>T	NP_000009.1:p.Val116=
NM_001033859.2:c.282G>T	NP_001029031.1:p.Val94=
NM_001270447.1:c.417G>T	NP_001257376.1:p.Val139=
NM_001270448.1:c.120G>T	NP_001257377.1:p.Val40=
XM_006721516.2:c.348G>T	XP_006721579.2:p.Val116=
XM_011523829.1:c.348G>T	XP_011522131.1:p.Val116=
XM_011523830.1:c.348G>T	XP_011522132.1:p.Val116=
XR_934021.1:n.455G>T
XR_934022.1:n.455G>T
XR_934023.1:n.455G>T
XM_006721516.3:c.348G>T	XP_006721579.2:p.Val116=
XM_011523829.2:c.348G>T	XP_011522131.1:p.Val116=
XM_011523830.2:c.348G>T	XP_011522132.1:p.Val116=
XM_024450741.1:c.348G>T	XP_024306509.1:p.Val116=
XR_934021.2:n.407G>T
XR_934022.2:n.407G>T
XR_934023.2:n.407G>T
NM_000018.4:c.348G>T MANE Select	NP_000009.1:p.Val116=
NM_001033859.3:c.282G>T	NP_001029031.1:p.Val94=
NM_001270447.2:c.417G>T	NP_001257376.1:p.Val139=
NM_001270448.2:c.120G>T	NP_001257377.1:p.Val40=