Canonical Allele Identifier: CA397725906

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128174A>G (hg19) ; chr17:g.7224855A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224855A>G , CM000679.2:g.7224855A>G	GRCh38
NC_000017.10:g.7128174A>G , CM000679.1:g.7128174A>G	GRCh37
NC_000017.9:g.7068898A>G	NCBI36
NG_007975.1:g.10022A>G
NG_008391.2:g.196T>C
NG_033038.1:g.14690T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1798A>G MANE Select	ENSP00000349297.5:p.Lys600Glu
ENST00000322910.9:c.*1753A>G	ENSP00000325395.5:n.*1753A>G
ENST00000350303.9:c.1732A>G	ENSP00000344152.5:p.Lys578Glu
ENST00000356839.9:c.1798A>G	ENSP00000349297.5:p.Lys600Glu
ENST00000542255.6:c.677A>G
ENST00000543245.6:c.1867A>G	ENSP00000438689.2:p.Lys623Glu
ENST00000578033.1:n.223A>G
ENST00000578319.5:n.379A>G
ENST00000578711.1:n.1351A>G
ENST00000578809.5:n.370A>G
ENST00000579425.5:n.914A>G
ENST00000579546.1:c.533A>G
ENST00000583848.5:c.164A>G	ENSP00000466487.1:n.164A>G
ENST00000583850.5:n.569A>G
ENST00000583858.5:c.729A>G
NM_000018.3:c.1798A>G	NP_000009.1:p.Lys600Glu
NM_001033859.2:c.1732A>G	NP_001029031.1:p.Lys578Glu
NM_001270447.1:c.1867A>G	NP_001257376.1:p.Lys623Glu
NM_001270448.1:c.1570A>G	NP_001257377.1:p.Lys524Glu
XM_006721516.2:c.1819A>G	XP_006721579.2:p.Lys607Glu
XM_011523829.1:c.1717A>G	XP_011522131.1:p.Lys573Glu
XM_011523830.1:c.1696A>G	XP_011522132.1:p.Lys566Glu
XR_934021.1:n.1901A>G
XR_934022.1:n.1807A>G
XR_934023.1:n.1828A>G
XM_006721516.3:c.1819A>G	XP_006721579.2:p.Lys607Glu
XM_011523829.2:c.1717A>G	XP_011522131.1:p.Lys573Glu
XM_011523830.2:c.1696A>G	XP_011522132.1:p.Lys566Glu
XM_024450741.1:c.1786A>G	XP_024306509.1:p.Lys596Glu
XR_934021.2:n.1853A>G
XR_934022.2:n.1759A>G
XR_934023.2:n.1780A>G
NM_000018.4:c.1798A>G MANE Select	NP_000009.1:p.Lys600Glu
NM_001033859.3:c.1732A>G	NP_001029031.1:p.Lys578Glu
NM_001270447.2:c.1867A>G	NP_001257376.1:p.Lys623Glu
NM_001270448.2:c.1570A>G	NP_001257377.1:p.Lys524Glu