Canonical Allele Identifier: CA8338308

Gene: ACADVL

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225023C>T , CM000679.2:g.7225023C>T	GRCh38
NC_000017.10:g.7128342C>T , CM000679.1:g.7128342C>T	GRCh37
NC_000017.9:g.7069066C>T	NCBI36
NG_007975.1:g.10190C>T
NG_008391.2:g.28G>A
NG_033038.1:g.14522G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1894C>T MANE Select	ENSP00000349297.5:p.Arg632Cys
ENST00000322910.9:c.*1849C>T	ENSP00000325395.5:n.*1849C>T
ENST00000350303.9:c.1828C>T	ENSP00000344152.5:p.Arg610Cys
ENST00000356839.9:c.1894C>T	ENSP00000349297.5:p.Arg632Cys
ENST00000542255.6:c.773C>T
ENST00000543245.6:c.1963C>T	ENSP00000438689.2:p.Arg655Cys
ENST00000578033.1:n.319C>T
ENST00000578319.5:n.475C>T
ENST00000578711.1:n.1519C>T
ENST00000578809.5:n.466C>T
ENST00000579425.5:n.1010C>T
ENST00000583848.5:c.260C>T	ENSP00000466487.1:n.260C>T
ENST00000583850.5:n.665C>T
ENST00000583858.5:c.825C>T
NM_000018.3:c.1894C>T	NP_000009.1:p.Arg632Cys
NM_001033859.2:c.1828C>T	NP_001029031.1:p.Arg610Cys
NM_001270447.1:c.1963C>T	NP_001257376.1:p.Arg655Cys
NM_001270448.1:c.1666C>T	NP_001257377.1:p.Arg556Cys
XM_006721516.2:c.1915C>T	XP_006721579.2:p.Arg639Cys
XM_011523829.1:c.1813C>T	XP_011522131.1:p.Arg605Cys
XM_011523830.1:c.1792C>T	XP_011522132.1:p.Arg598Cys
XR_934021.1:n.1997C>T
XR_934022.1:n.1903C>T
XR_934023.1:n.1924C>T
XM_006721516.3:c.1915C>T	XP_006721579.2:p.Arg639Cys
XM_011523829.2:c.1813C>T	XP_011522131.1:p.Arg605Cys
XM_011523830.2:c.1792C>T	XP_011522132.1:p.Arg598Cys
XM_024450741.1:c.1882C>T	XP_024306509.1:p.Arg628Cys
XR_934021.2:n.1949C>T
XR_934022.2:n.1855C>T
XR_934023.2:n.1876C>T
NM_000018.4:c.1894C>T MANE Select	NP_000009.1:p.Arg632Cys
NM_001033859.3:c.1828C>T	NP_001029031.1:p.Arg610Cys
NM_001270447.2:c.1963C>T	NP_001257376.1:p.Arg655Cys
NM_001270448.2:c.1666C>T	NP_001257377.1:p.Arg556Cys