Canonical Allele Identifier: CA397726049

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128309C>A (hg19) ; chr17:g.7224990C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224990C>A , CM000679.2:g.7224990C>A	GRCh38
NC_000017.10:g.7128309C>A , CM000679.1:g.7128309C>A	GRCh37
NC_000017.9:g.7069033C>A	NCBI36
NG_007975.1:g.10157C>A
NG_008391.2:g.61G>T
NG_033038.1:g.14555G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1861C>A MANE Select	ENSP00000349297.5:p.Leu621Met
ENST00000322910.9:c.*1816C>A	ENSP00000325395.5:n.*1816C>A
ENST00000350303.9:c.1795C>A	ENSP00000344152.5:p.Leu599Met
ENST00000356839.9:c.1861C>A	ENSP00000349297.5:p.Leu621Met
ENST00000542255.6:c.740C>A
ENST00000543245.6:c.1930C>A	ENSP00000438689.2:p.Leu644Met
ENST00000578033.1:n.286C>A
ENST00000578319.5:n.442C>A
ENST00000578711.1:n.1486C>A
ENST00000578809.5:n.433C>A
ENST00000579425.5:n.977C>A
ENST00000583848.5:c.227C>A	ENSP00000466487.1:n.227C>A
ENST00000583850.5:n.632C>A
ENST00000583858.5:c.792C>A
NM_000018.3:c.1861C>A	NP_000009.1:p.Leu621Met
NM_001033859.2:c.1795C>A	NP_001029031.1:p.Leu599Met
NM_001270447.1:c.1930C>A	NP_001257376.1:p.Leu644Met
NM_001270448.1:c.1633C>A	NP_001257377.1:p.Leu545Met
XM_006721516.2:c.1882C>A	XP_006721579.2:p.Leu628Met
XM_011523829.1:c.1780C>A	XP_011522131.1:p.Leu594Met
XM_011523830.1:c.1759C>A	XP_011522132.1:p.Leu587Met
XR_934021.1:n.1964C>A
XR_934022.1:n.1870C>A
XR_934023.1:n.1891C>A
XM_006721516.3:c.1882C>A	XP_006721579.2:p.Leu628Met
XM_011523829.2:c.1780C>A	XP_011522131.1:p.Leu594Met
XM_011523830.2:c.1759C>A	XP_011522132.1:p.Leu587Met
XM_024450741.1:c.1849C>A	XP_024306509.1:p.Leu617Met
XR_934021.2:n.1916C>A
XR_934022.2:n.1822C>A
XR_934023.2:n.1843C>A
NM_000018.4:c.1861C>A MANE Select	NP_000009.1:p.Leu621Met
NM_001033859.3:c.1795C>A	NP_001029031.1:p.Leu599Met
NM_001270447.2:c.1930C>A	NP_001257376.1:p.Leu644Met
NM_001270448.2:c.1633C>A	NP_001257377.1:p.Leu545Met