Canonical Allele Identifier: CA397726279

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128416A>T (hg19) ; chr17:g.7225097A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225097A>T , CM000679.2:g.7225097A>T	GRCh38
NC_000017.10:g.7128416A>T , CM000679.1:g.7128416A>T	GRCh37
NC_000017.9:g.7069140A>T	NCBI36
NG_007975.1:g.10264A>T
NG_033038.1:g.14448T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1968A>T MANE Select	ENSP00000349297.5:p.Ter656Cys
ENST00000322910.9:c.*1923A>T	ENSP00000325395.5:n.*1923A>T
ENST00000350303.9:c.1902A>T	ENSP00000344152.5:p.Ter634Cys
ENST00000356839.9:c.1968A>T	ENSP00000349297.5:p.Ter656Cys
ENST00000542255.6:c.847A>T
ENST00000543245.6:c.2037A>T	ENSP00000438689.2:p.Ter679Cys
ENST00000578033.1:n.393A>T
ENST00000578319.5:n.549A>T
ENST00000578711.1:n.1593A>T
ENST00000578809.5:n.540A>T
ENST00000579425.5:n.1084A>T
ENST00000583848.5:c.334A>T	ENSP00000466487.1:n.334A>T
ENST00000583850.5:n.739A>T
ENST00000583858.5:c.899A>T
NM_000018.3:c.1968A>T	NP_000009.1:p.Ter656Cys
NM_001033859.2:c.1902A>T	NP_001029031.1:p.Ter634Cys
NM_001270447.1:c.2037A>T	NP_001257376.1:p.Ter679Cys
NM_001270448.1:c.1740A>T	NP_001257377.1:p.Ter580Cys
XM_006721516.2:c.1989A>T	XP_006721579.2:p.Ter663Cys
XM_011523829.1:c.1887A>T	XP_011522131.1:p.Ter629Cys
XM_011523830.1:c.1866A>T	XP_011522132.1:p.Ter622Cys
XR_934021.1:n.2071A>T
XR_934022.1:n.1977A>T
XR_934023.1:n.1998A>T
XM_006721516.3:c.1989A>T	XP_006721579.2:p.Ter663Cys
XM_011523829.2:c.1887A>T	XP_011522131.1:p.Ter629Cys
XM_011523830.2:c.1866A>T	XP_011522132.1:p.Ter622Cys
XM_024450741.1:c.1956A>T	XP_024306509.1:p.Ter652Cys
XR_934021.2:n.2023A>T
XR_934022.2:n.1929A>T
XR_934023.2:n.1950A>T
NM_000018.4:c.1968A>T MANE Select	NP_000009.1:p.Ter656Cys
NM_001033859.3:c.1902A>T	NP_001029031.1:p.Ter634Cys
NM_001270447.2:c.2037A>T	NP_001257376.1:p.Ter679Cys
NM_001270448.2:c.1740A>T	NP_001257377.1:p.Ter580Cys