Canonical Allele Identifier: CA497694517

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128281A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224962A>T , CM000679.2:g.7224962A>T	GRCh38
NC_000017.10:g.7128281A>T , CM000679.1:g.7128281A>T	GRCh37
NC_000017.9:g.7069005A>T	NCBI36
NG_007975.1:g.10129A>T
NG_008391.2:g.89T>A
NG_033038.1:g.14583T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1833A>T MANE Select	ENSP00000349297.5:p.Ala611=
ENST00000322910.9:c.*1788A>T	ENSP00000325395.5:n.*1788A>T
ENST00000350303.9:c.1767A>T	ENSP00000344152.5:p.Ala589=
ENST00000356839.9:c.1833A>T	ENSP00000349297.5:p.Ala611=
ENST00000542255.6:c.712A>T
ENST00000543245.6:c.1902A>T	ENSP00000438689.2:p.Ala634=
ENST00000578033.1:n.258A>T
ENST00000578319.5:n.414A>T
ENST00000578711.1:n.1458A>T
ENST00000578809.5:n.405A>T
ENST00000579425.5:n.949A>T
ENST00000579546.1:c.568A>T
ENST00000583848.5:c.199A>T	ENSP00000466487.1:n.199A>T
ENST00000583850.5:n.604A>T
ENST00000583858.5:c.764A>T
NM_000018.3:c.1833A>T	NP_000009.1:p.Ala611=
NM_001033859.2:c.1767A>T	NP_001029031.1:p.Ala589=
NM_001270447.1:c.1902A>T	NP_001257376.1:p.Ala634=
NM_001270448.1:c.1605A>T	NP_001257377.1:p.Ala535=
XM_006721516.2:c.1854A>T	XP_006721579.2:p.Ala618=
XM_011523829.1:c.1752A>T	XP_011522131.1:p.Ala584=
XM_011523830.1:c.1731A>T	XP_011522132.1:p.Ala577=
XR_934021.1:n.1936A>T
XR_934022.1:n.1842A>T
XR_934023.1:n.1863A>T
XM_006721516.3:c.1854A>T	XP_006721579.2:p.Ala618=
XM_011523829.2:c.1752A>T	XP_011522131.1:p.Ala584=
XM_011523830.2:c.1731A>T	XP_011522132.1:p.Ala577=
XM_024450741.1:c.1821A>T	XP_024306509.1:p.Ala607=
XR_934021.2:n.1888A>T
XR_934022.2:n.1794A>T
XR_934023.2:n.1815A>T
NM_000018.4:c.1833A>T MANE Select	NP_000009.1:p.Ala611=
NM_001033859.3:c.1767A>T	NP_001029031.1:p.Ala589=
NM_001270447.2:c.1902A>T	NP_001257376.1:p.Ala634=
NM_001270448.2:c.1605A>T	NP_001257377.1:p.Ala535=