Canonical Allele Identifier: CA397724836

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7223852-A-T
• MyVariant Identifiers: chr17:g.7127171A>T (hg19) ; chr17:g.7223852A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223852A>T , CM000679.2:g.7223852A>T	GRCh38
NC_000017.10:g.7127171A>T , CM000679.1:g.7127171A>T	GRCh37
NC_000017.9:g.7067895A>T	NCBI36
NG_007975.1:g.9019A>T
NG_008391.2:g.1199T>A
NG_033038.1:g.15693T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1309A>T MANE Select	ENSP00000349297.5:p.Met437Leu
ENST00000322910.9:c.*1264A>T	ENSP00000325395.5:n.*1264A>T
ENST00000350303.9:c.1243A>T	ENSP00000344152.5:p.Met415Leu
ENST00000356839.9:c.1309A>T	ENSP00000349297.5:p.Met437Leu
ENST00000542255.6:c.167A>T
ENST00000543245.6:c.1378A>T	ENSP00000438689.2:p.Met460Leu
ENST00000578711.1:n.348A>T
ENST00000579425.5:n.333A>T
ENST00000579546.1:c.146A>T
ENST00000583074.5:n.28A>T
ENST00000583850.5:n.84A>T
ENST00000583858.5:c.338A>T
ENST00000585203.6:n.517A>T
NM_000018.3:c.1309A>T	NP_000009.1:p.Met437Leu
NM_001033859.2:c.1243A>T	NP_001029031.1:p.Met415Leu
NM_001270447.1:c.1378A>T	NP_001257376.1:p.Met460Leu
NM_001270448.1:c.1081A>T	NP_001257377.1:p.Met361Leu
XM_006721516.2:c.1309A>T	XP_006721579.2:p.Met437Leu
XM_011523829.1:c.1309A>T	XP_011522131.1:p.Met437Leu
XM_011523830.1:c.1309A>T	XP_011522132.1:p.Met437Leu
XR_934021.1:n.1416A>T
XR_934022.1:n.1416A>T
XR_934023.1:n.1416A>T
XM_006721516.3:c.1309A>T	XP_006721579.2:p.Met437Leu
XM_011523829.2:c.1309A>T	XP_011522131.1:p.Met437Leu
XM_011523830.2:c.1309A>T	XP_011522132.1:p.Met437Leu
XM_024450741.1:c.1309A>T	XP_024306509.1:p.Met437Leu
XR_934021.2:n.1368A>T
XR_934022.2:n.1368A>T
XR_934023.2:n.1368A>T
NM_000018.4:c.1309A>T MANE Select	NP_000009.1:p.Met437Leu
NM_001033859.3:c.1243A>T	NP_001029031.1:p.Met415Leu
NM_001270447.2:c.1378A>T	NP_001257376.1:p.Met460Leu
NM_001270448.2:c.1081A>T	NP_001257377.1:p.Met361Leu