Canonical Allele Identifier: CA397726246

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128400A>T (hg19) ; chr17:g.7225081A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225081A>T , CM000679.2:g.7225081A>T	GRCh38
NC_000017.10:g.7128400A>T , CM000679.1:g.7128400A>T	GRCh37
NC_000017.9:g.7069124A>T	NCBI36
NG_007975.1:g.10248A>T
NG_033038.1:g.14464T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1952A>T MANE Select	ENSP00000349297.5:p.Asn651Ile
ENST00000322910.9:c.*1907A>T	ENSP00000325395.5:n.*1907A>T
ENST00000350303.9:c.1886A>T	ENSP00000344152.5:p.Asn629Ile
ENST00000356839.9:c.1952A>T	ENSP00000349297.5:p.Asn651Ile
ENST00000542255.6:c.831A>T
ENST00000543245.6:c.2021A>T	ENSP00000438689.2:p.Asn674Ile
ENST00000578033.1:n.377A>T
ENST00000578319.5:n.533A>T
ENST00000578711.1:n.1577A>T
ENST00000578809.5:n.524A>T
ENST00000579425.5:n.1068A>T
ENST00000583848.5:c.318A>T	ENSP00000466487.1:n.318A>T
ENST00000583850.5:n.723A>T
ENST00000583858.5:c.883A>T
NM_000018.3:c.1952A>T	NP_000009.1:p.Asn651Ile
NM_001033859.2:c.1886A>T	NP_001029031.1:p.Asn629Ile
NM_001270447.1:c.2021A>T	NP_001257376.1:p.Asn674Ile
NM_001270448.1:c.1724A>T	NP_001257377.1:p.Asn575Ile
XM_006721516.2:c.1973A>T	XP_006721579.2:p.Asn658Ile
XM_011523829.1:c.1871A>T	XP_011522131.1:p.Asn624Ile
XM_011523830.1:c.1850A>T	XP_011522132.1:p.Asn617Ile
XR_934021.1:n.2055A>T
XR_934022.1:n.1961A>T
XR_934023.1:n.1982A>T
XM_006721516.3:c.1973A>T	XP_006721579.2:p.Asn658Ile
XM_011523829.2:c.1871A>T	XP_011522131.1:p.Asn624Ile
XM_011523830.2:c.1850A>T	XP_011522132.1:p.Asn617Ile
XM_024450741.1:c.1940A>T	XP_024306509.1:p.Asn647Ile
XR_934021.2:n.2007A>T
XR_934022.2:n.1913A>T
XR_934023.2:n.1934A>T
NM_000018.4:c.1952A>T MANE Select	NP_000009.1:p.Asn651Ile
NM_001033859.3:c.1886A>T	NP_001029031.1:p.Asn629Ile
NM_001270447.2:c.2021A>T	NP_001257376.1:p.Asn674Ile
NM_001270448.2:c.1724A>T	NP_001257377.1:p.Asn575Ile