Canonical Allele Identifier: CA397724789

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7223832-C-T
• MyVariant Identifiers: chr17:g.7127151C>T (hg19) ; chr17:g.7223832C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223832C>T , CM000679.2:g.7223832C>T	GRCh38
NC_000017.10:g.7127151C>T , CM000679.1:g.7127151C>T	GRCh37
NC_000017.9:g.7067875C>T	NCBI36
NG_007975.1:g.8999C>T
NG_008391.2:g.1219G>A
NG_033038.1:g.15713G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1289C>T MANE Select	ENSP00000349297.5:p.Thr430Ile
ENST00000322910.9:c.*1244C>T	ENSP00000325395.5:n.*1244C>T
ENST00000350303.9:c.1223C>T	ENSP00000344152.5:p.Thr408Ile
ENST00000356839.9:c.1289C>T	ENSP00000349297.5:p.Thr430Ile
ENST00000542255.6:c.147C>T
ENST00000543245.6:c.1358C>T	ENSP00000438689.2:p.Thr453Ile
ENST00000578711.1:n.328C>T
ENST00000578824.5:n.705C>T
ENST00000579425.5:n.313C>T
ENST00000579546.1:c.126C>T
ENST00000583074.5:n.8C>T
ENST00000583850.5:n.64C>T
ENST00000583858.5:c.318C>T
ENST00000585203.6:n.497C>T
NM_000018.3:c.1289C>T	NP_000009.1:p.Thr430Ile
NM_001033859.2:c.1223C>T	NP_001029031.1:p.Thr408Ile
NM_001270447.1:c.1358C>T	NP_001257376.1:p.Thr453Ile
NM_001270448.1:c.1061C>T	NP_001257377.1:p.Thr354Ile
XM_006721516.2:c.1289C>T	XP_006721579.2:p.Thr430Ile
XM_011523829.1:c.1289C>T	XP_011522131.1:p.Thr430Ile
XM_011523830.1:c.1289C>T	XP_011522132.1:p.Thr430Ile
XR_934021.1:n.1396C>T
XR_934022.1:n.1396C>T
XR_934023.1:n.1396C>T
XM_006721516.3:c.1289C>T	XP_006721579.2:p.Thr430Ile
XM_011523829.2:c.1289C>T	XP_011522131.1:p.Thr430Ile
XM_011523830.2:c.1289C>T	XP_011522132.1:p.Thr430Ile
XM_024450741.1:c.1289C>T	XP_024306509.1:p.Thr430Ile
XR_934021.2:n.1348C>T
XR_934022.2:n.1348C>T
XR_934023.2:n.1348C>T
NM_000018.4:c.1289C>T MANE Select	NP_000009.1:p.Thr430Ile
NM_001033859.3:c.1223C>T	NP_001029031.1:p.Thr408Ile
NM_001270447.2:c.1358C>T	NP_001257376.1:p.Thr453Ile
NM_001270448.2:c.1061C>T	NP_001257377.1:p.Thr354Ile