Canonical Allele Identifier: CA397726017

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128294G>A (hg19) ; chr17:g.7224975G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224975G>A , CM000679.2:g.7224975G>A	GRCh38
NC_000017.10:g.7128294G>A , CM000679.1:g.7128294G>A	GRCh37
NC_000017.9:g.7069018G>A	NCBI36
NG_007975.1:g.10142G>A
NG_008391.2:g.76C>T
NG_033038.1:g.14570C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1846G>A MANE Select	ENSP00000349297.5:p.Glu616Lys
ENST00000322910.9:c.*1801G>A	ENSP00000325395.5:n.*1801G>A
ENST00000350303.9:c.1780G>A	ENSP00000344152.5:p.Glu594Lys
ENST00000356839.9:c.1846G>A	ENSP00000349297.5:p.Glu616Lys
ENST00000542255.6:c.725G>A
ENST00000543245.6:c.1915G>A	ENSP00000438689.2:p.Glu639Lys
ENST00000578033.1:n.271G>A
ENST00000578319.5:n.427G>A
ENST00000578711.1:n.1471G>A
ENST00000578809.5:n.418G>A
ENST00000579425.5:n.962G>A
ENST00000579546.1:c.581G>A
ENST00000583848.5:c.212G>A	ENSP00000466487.1:n.212G>A
ENST00000583850.5:n.617G>A
ENST00000583858.5:c.777G>A
NM_000018.3:c.1846G>A	NP_000009.1:p.Glu616Lys
NM_001033859.2:c.1780G>A	NP_001029031.1:p.Glu594Lys
NM_001270447.1:c.1915G>A	NP_001257376.1:p.Glu639Lys
NM_001270448.1:c.1618G>A	NP_001257377.1:p.Glu540Lys
XM_006721516.2:c.1867G>A	XP_006721579.2:p.Glu623Lys
XM_011523829.1:c.1765G>A	XP_011522131.1:p.Glu589Lys
XM_011523830.1:c.1744G>A	XP_011522132.1:p.Glu582Lys
XR_934021.1:n.1949G>A
XR_934022.1:n.1855G>A
XR_934023.1:n.1876G>A
XM_006721516.3:c.1867G>A	XP_006721579.2:p.Glu623Lys
XM_011523829.2:c.1765G>A	XP_011522131.1:p.Glu589Lys
XM_011523830.2:c.1744G>A	XP_011522132.1:p.Glu582Lys
XM_024450741.1:c.1834G>A	XP_024306509.1:p.Glu612Lys
XR_934021.2:n.1901G>A
XR_934022.2:n.1807G>A
XR_934023.2:n.1828G>A
NM_000018.4:c.1846G>A MANE Select	NP_000009.1:p.Glu616Lys
NM_001033859.3:c.1780G>A	NP_001029031.1:p.Glu594Lys
NM_001270447.2:c.1915G>A	NP_001257376.1:p.Glu639Lys
NM_001270448.2:c.1618G>A	NP_001257377.1:p.Glu540Lys