Canonical Allele Identifier: CA397726278

Gene: ACADVL

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1968A>G MANE Select	ENSP00000349297.5:p.Ter656Trp
ENST00000322910.9:c.*1923A>G	ENSP00000325395.5:n.*1923A>G
ENST00000350303.9:c.1902A>G	ENSP00000344152.5:p.Ter634Trp
ENST00000356839.9:c.1968A>G	ENSP00000349297.5:p.Ter656Trp
ENST00000542255.6:c.847A>G
ENST00000543245.6:c.2037A>G	ENSP00000438689.2:p.Ter679Trp
ENST00000578033.1:n.393A>G
ENST00000578319.5:n.549A>G
ENST00000578711.1:n.1593A>G
ENST00000578809.5:n.540A>G
ENST00000579425.5:n.1084A>G
ENST00000583848.5:c.334A>G	ENSP00000466487.1:n.334A>G
ENST00000583850.5:n.739A>G
ENST00000583858.5:c.899A>G
NM_000018.3:c.1968A>G	NP_000009.1:p.Ter656Trp
NM_001033859.2:c.1902A>G	NP_001029031.1:p.Ter634Trp
NM_001270447.1:c.2037A>G	NP_001257376.1:p.Ter679Trp
NM_001270448.1:c.1740A>G	NP_001257377.1:p.Ter580Trp
XM_006721516.2:c.1989A>G	XP_006721579.2:p.Ter663Trp
XM_011523829.1:c.1887A>G	XP_011522131.1:p.Ter629Trp
XM_011523830.1:c.1866A>G	XP_011522132.1:p.Ter622Trp
XR_934021.1:n.2071A>G
XR_934022.1:n.1977A>G
XR_934023.1:n.1998A>G
XM_006721516.3:c.1989A>G	XP_006721579.2:p.Ter663Trp
XM_011523829.2:c.1887A>G	XP_011522131.1:p.Ter629Trp
XM_011523830.2:c.1866A>G	XP_011522132.1:p.Ter622Trp
XM_024450741.1:c.1956A>G	XP_024306509.1:p.Ter652Trp
XR_934021.2:n.2023A>G
XR_934022.2:n.1929A>G
XR_934023.2:n.1950A>G
NM_000018.4:c.1968A>G MANE Select	NP_000009.1:p.Ter656Trp
NM_001033859.3:c.1902A>G	NP_001029031.1:p.Ter634Trp
NM_001270447.2:c.2037A>G	NP_001257376.1:p.Ter679Trp
NM_001270448.2:c.1740A>G	NP_001257377.1:p.Ter580Trp