Canonical Allele Identifier: CA397725019

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7224028-A-G
• MyVariant Identifiers: chr17:g.7127347A>G (hg19) ; chr17:g.7224028A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224028A>G , CM000679.2:g.7224028A>G	GRCh38
NC_000017.10:g.7127347A>G , CM000679.1:g.7127347A>G	GRCh37
NC_000017.9:g.7068071A>G	NCBI36
NG_007975.1:g.9195A>G
NG_008391.2:g.1023T>C
NG_033038.1:g.15517T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1393A>G MANE Select	ENSP00000349297.5:p.Asn465Asp
ENST00000322910.9:c.*1348A>G	ENSP00000325395.5:n.*1348A>G
ENST00000350303.9:c.1327A>G	ENSP00000344152.5:p.Asn443Asp
ENST00000356839.9:c.1393A>G	ENSP00000349297.5:p.Asn465Asp
ENST00000542255.6:c.251A>G
ENST00000543245.6:c.1462A>G	ENSP00000438689.2:p.Asn488Asp
ENST00000578711.1:n.524A>G
ENST00000579425.5:n.509A>G
ENST00000579546.1:c.230A>G
ENST00000579894.5:n.104A>G
ENST00000583074.5:n.112A>G
ENST00000583850.5:n.168A>G
ENST00000583858.5:c.422A>G
ENST00000585203.6:n.584A>G
NM_000018.3:c.1393A>G	NP_000009.1:p.Asn465Asp
NM_001033859.2:c.1327A>G	NP_001029031.1:p.Asn443Asp
NM_001270447.1:c.1462A>G	NP_001257376.1:p.Asn488Asp
NM_001270448.1:c.1165A>G	NP_001257377.1:p.Asn389Asp
XM_006721516.2:c.1393A>G	XP_006721579.2:p.Asn465Asp
XM_011523829.1:c.1393A>G	XP_011522131.1:p.Asn465Asp
XM_011523830.1:c.1393A>G	XP_011522132.1:p.Asn465Asp
XR_934021.1:n.1500A>G
XR_934022.1:n.1500A>G
XR_934023.1:n.1500A>G
XM_006721516.3:c.1393A>G	XP_006721579.2:p.Asn465Asp
XM_011523829.2:c.1393A>G	XP_011522131.1:p.Asn465Asp
XM_011523830.2:c.1393A>G	XP_011522132.1:p.Asn465Asp
XM_024450741.1:c.1393A>G	XP_024306509.1:p.Asn465Asp
XR_934021.2:n.1452A>G
XR_934022.2:n.1452A>G
XR_934023.2:n.1452A>G
NM_000018.4:c.1393A>G MANE Select	NP_000009.1:p.Asn465Asp
NM_001033859.3:c.1327A>G	NP_001029031.1:p.Asn443Asp
NM_001270447.2:c.1462A>G	NP_001257376.1:p.Asn488Asp
NM_001270448.2:c.1165A>G	NP_001257377.1:p.Asn389Asp