Canonical Allele Identifier: CA397726099

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128332A>T (hg19) ; chr17:g.7225013A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225013A>T , CM000679.2:g.7225013A>T	GRCh38
NC_000017.10:g.7128332A>T , CM000679.1:g.7128332A>T	GRCh37
NC_000017.9:g.7069056A>T	NCBI36
NG_007975.1:g.10180A>T
NG_008391.2:g.38T>A
NG_033038.1:g.14532T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1884A>T MANE Select	ENSP00000349297.5:p.Gln628His
ENST00000322910.9:c.*1839A>T	ENSP00000325395.5:n.*1839A>T
ENST00000350303.9:c.1818A>T	ENSP00000344152.5:p.Gln606His
ENST00000356839.9:c.1884A>T	ENSP00000349297.5:p.Gln628His
ENST00000542255.6:c.763A>T
ENST00000543245.6:c.1953A>T	ENSP00000438689.2:p.Gln651His
ENST00000578033.1:n.309A>T
ENST00000578319.5:n.465A>T
ENST00000578711.1:n.1509A>T
ENST00000578809.5:n.456A>T
ENST00000579425.5:n.1000A>T
ENST00000583848.5:c.250A>T	ENSP00000466487.1:n.250A>T
ENST00000583850.5:n.655A>T
ENST00000583858.5:c.815A>T
NM_000018.3:c.1884A>T	NP_000009.1:p.Gln628His
NM_001033859.2:c.1818A>T	NP_001029031.1:p.Gln606His
NM_001270447.1:c.1953A>T	NP_001257376.1:p.Gln651His
NM_001270448.1:c.1656A>T	NP_001257377.1:p.Gln552His
XM_006721516.2:c.1905A>T	XP_006721579.2:p.Gln635His
XM_011523829.1:c.1803A>T	XP_011522131.1:p.Gln601His
XM_011523830.1:c.1782A>T	XP_011522132.1:p.Gln594His
XR_934021.1:n.1987A>T
XR_934022.1:n.1893A>T
XR_934023.1:n.1914A>T
XM_006721516.3:c.1905A>T	XP_006721579.2:p.Gln635His
XM_011523829.2:c.1803A>T	XP_011522131.1:p.Gln601His
XM_011523830.2:c.1782A>T	XP_011522132.1:p.Gln594His
XM_024450741.1:c.1872A>T	XP_024306509.1:p.Gln624His
XR_934021.2:n.1939A>T
XR_934022.2:n.1845A>T
XR_934023.2:n.1866A>T
NM_000018.4:c.1884A>T MANE Select	NP_000009.1:p.Gln628His
NM_001033859.3:c.1818A>T	NP_001029031.1:p.Gln606His
NM_001270447.2:c.1953A>T	NP_001257376.1:p.Gln651His
NM_001270448.2:c.1656A>T	NP_001257377.1:p.Gln552His