Canonical Allele Identifier: CA397725585

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7127851A>T (hg19) ; chr17:g.7224532A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224532A>T , CM000679.2:g.7224532A>T	GRCh38
NC_000017.10:g.7127851A>T , CM000679.1:g.7127851A>T	GRCh37
NC_000017.9:g.7068575A>T	NCBI36
NG_007975.1:g.9699A>T
NG_008391.2:g.519T>A
NG_033038.1:g.15013T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1658A>T MANE Select	ENSP00000349297.5:p.Lys553Ile
ENST00000322910.9:c.*1613A>T	ENSP00000325395.5:n.*1613A>T
ENST00000350303.9:c.1592A>T	ENSP00000344152.5:p.Lys531Ile
ENST00000356839.9:c.1658A>T	ENSP00000349297.5:p.Lys553Ile
ENST00000542255.6:c.516A>T
ENST00000543245.6:c.1727A>T	ENSP00000438689.2:p.Lys576Ile
ENST00000578319.5:n.239A>T
ENST00000578711.1:n.1028A>T
ENST00000578809.5:n.230A>T
ENST00000579391.1:n.262A>T
ENST00000579425.5:n.774A>T
ENST00000579546.1:c.393A>T
ENST00000582450.1:n.166A>T
ENST00000583074.5:n.279A>T
ENST00000583848.5:c.44A>T	ENSP00000466487.1:p.Lys15Ile
ENST00000583850.5:n.429A>T
ENST00000583858.5:c.589A>T
ENST00000585203.6:n.849A>T
NM_000018.3:c.1658A>T	NP_000009.1:p.Lys553Ile
NM_001033859.2:c.1592A>T	NP_001029031.1:p.Lys531Ile
NM_001270447.1:c.1727A>T	NP_001257376.1:p.Lys576Ile
NM_001270448.1:c.1430A>T	NP_001257377.1:p.Lys477Ile
XM_006721516.2:c.1658A>T	XP_006721579.2:p.Lys553Ile
XM_011523829.1:c.1556A>T	XP_011522131.1:p.Lys519Ile
XM_011523830.1:c.1556A>T	XP_011522132.1:p.Lys519Ile
XR_934021.1:n.1761A>T
XR_934022.1:n.1667A>T
XR_934023.1:n.1667A>T
XM_006721516.3:c.1658A>T	XP_006721579.2:p.Lys553Ile
XM_011523829.2:c.1556A>T	XP_011522131.1:p.Lys519Ile
XM_011523830.2:c.1556A>T	XP_011522132.1:p.Lys519Ile
XM_024450741.1:c.1646A>T	XP_024306509.1:p.Lys549Ile
XR_934021.2:n.1713A>T
XR_934022.2:n.1619A>T
XR_934023.2:n.1619A>T
NM_000018.4:c.1658A>T MANE Select	NP_000009.1:p.Lys553Ile
NM_001033859.3:c.1592A>T	NP_001029031.1:p.Lys531Ile
NM_001270447.2:c.1727A>T	NP_001257376.1:p.Lys576Ile
NM_001270448.2:c.1430A>T	NP_001257377.1:p.Lys477Ile