Canonical Allele Identifier: CA397725792

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128032A>T (hg19) ; chr17:g.7224713A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224713A>T , CM000679.2:g.7224713A>T	GRCh38
NC_000017.10:g.7128032A>T , CM000679.1:g.7128032A>T	GRCh37
NC_000017.9:g.7068756A>T	NCBI36
NG_007975.1:g.9880A>T
NG_008391.2:g.338T>A
NG_033038.1:g.14832T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1750A>T MANE Select	ENSP00000349297.5:p.Arg584Trp
ENST00000322910.9:c.*1705A>T	ENSP00000325395.5:n.*1705A>T
ENST00000350303.9:c.1684A>T	ENSP00000344152.5:p.Arg562Trp
ENST00000356839.9:c.1750A>T	ENSP00000349297.5:p.Arg584Trp
ENST00000542255.6:c.537-2A>T
ENST00000543245.6:c.1819A>T	ENSP00000438689.2:p.Arg607Trp
ENST00000578033.1:n.81A>T
ENST00000578319.5:n.331A>T
ENST00000578711.1:n.1209A>T
ENST00000578809.5:n.322A>T
ENST00000579425.5:n.866A>T
ENST00000579546.1:c.485A>T
ENST00000583074.5:n.300-2A>T
ENST00000583848.5:c.116A>T	ENSP00000466487.1:p.Glu39Val
ENST00000583850.5:n.521A>T
ENST00000583858.5:c.681A>T
ENST00000585203.6:n.941A>T
NM_000018.3:c.1750A>T	NP_000009.1:p.Arg584Trp
NM_001033859.2:c.1684A>T	NP_001029031.1:p.Arg562Trp
NM_001270447.1:c.1819A>T	NP_001257376.1:p.Arg607Trp
NM_001270448.1:c.1522A>T	NP_001257377.1:p.Arg508Trp
XM_006721516.2:c.1679-2A>T	XP_006721579.2:n.1679-2A>T
XM_011523829.1:c.1577-2A>T	XP_011522131.1:n.1577-2A>T
XM_011523830.1:c.1648A>T	XP_011522132.1:p.Arg550Trp
XR_934021.1:n.1853A>T
XR_934022.1:n.1759A>T
XR_934023.1:n.1688-2A>T
XM_006721516.3:c.1679-2A>T	XP_006721579.2:n.1679-2A>T
XM_011523829.2:c.1577-2A>T	XP_011522131.1:n.1577-2A>T
XM_011523830.2:c.1648A>T	XP_011522132.1:p.Arg550Trp
XM_024450741.1:c.1738A>T	XP_024306509.1:p.Arg580Trp
XR_934021.2:n.1805A>T
XR_934022.2:n.1711A>T
XR_934023.2:n.1640-2A>T
NM_000018.4:c.1750A>T MANE Select	NP_000009.1:p.Arg584Trp
NM_001033859.3:c.1684A>T	NP_001029031.1:p.Arg562Trp
NM_001270447.2:c.1819A>T	NP_001257376.1:p.Arg607Trp
NM_001270448.2:c.1522A>T	NP_001257377.1:p.Arg508Trp