Canonical Allele Identifier: CA397725022

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127348A>T (hg19) ; chr17:g.7224029A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224029A>T , CM000679.2:g.7224029A>T	GRCh38
NC_000017.10:g.7127348A>T , CM000679.1:g.7127348A>T	GRCh37
NC_000017.9:g.7068072A>T	NCBI36
NG_007975.1:g.9196A>T
NG_008391.2:g.1022T>A
NG_033038.1:g.15516T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1394A>T MANE Select	ENSP00000349297.5:p.Asn465Ile
ENST00000322910.9:c.*1349A>T	ENSP00000325395.5:n.*1349A>T
ENST00000350303.9:c.1328A>T	ENSP00000344152.5:p.Asn443Ile
ENST00000356839.9:c.1394A>T	ENSP00000349297.5:p.Asn465Ile
ENST00000542255.6:c.252A>T
ENST00000543245.6:c.1463A>T	ENSP00000438689.2:p.Asn488Ile
ENST00000578711.1:n.525A>T
ENST00000579425.5:n.510A>T
ENST00000579546.1:c.231A>T
ENST00000579894.5:n.105A>T
ENST00000583074.5:n.113A>T
ENST00000583850.5:n.169A>T
ENST00000583858.5:c.423A>T
ENST00000585203.6:n.585A>T
NM_000018.3:c.1394A>T	NP_000009.1:p.Asn465Ile
NM_001033859.2:c.1328A>T	NP_001029031.1:p.Asn443Ile
NM_001270447.1:c.1463A>T	NP_001257376.1:p.Asn488Ile
NM_001270448.1:c.1166A>T	NP_001257377.1:p.Asn389Ile
XM_006721516.2:c.1394A>T	XP_006721579.2:p.Asn465Ile
XM_011523829.1:c.1394A>T	XP_011522131.1:p.Asn465Ile
XM_011523830.1:c.1394A>T	XP_011522132.1:p.Asn465Ile
XR_934021.1:n.1501A>T
XR_934022.1:n.1501A>T
XR_934023.1:n.1501A>T
XM_006721516.3:c.1394A>T	XP_006721579.2:p.Asn465Ile
XM_011523829.2:c.1394A>T	XP_011522131.1:p.Asn465Ile
XM_011523830.2:c.1394A>T	XP_011522132.1:p.Asn465Ile
XM_024450741.1:c.1394A>T	XP_024306509.1:p.Asn465Ile
XR_934021.2:n.1453A>T
XR_934022.2:n.1453A>T
XR_934023.2:n.1453A>T
NM_000018.4:c.1394A>T MANE Select	NP_000009.1:p.Asn465Ile
NM_001033859.3:c.1328A>T	NP_001029031.1:p.Asn443Ile
NM_001270447.2:c.1463A>T	NP_001257376.1:p.Asn488Ile
NM_001270448.2:c.1166A>T	NP_001257377.1:p.Asn389Ile