Canonical Allele Identifier: CA397726255

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7128405C>A (hg19) ; chr17:g.7225086C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225086C>A , CM000679.2:g.7225086C>A	GRCh38
NC_000017.10:g.7128405C>A , CM000679.1:g.7128405C>A	GRCh37
NC_000017.9:g.7069129C>A	NCBI36
NG_007975.1:g.10253C>A
NG_033038.1:g.14459G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1957C>A MANE Select	ENSP00000349297.5:p.Leu653Ile
ENST00000322910.9:c.*1912C>A	ENSP00000325395.5:n.*1912C>A
ENST00000350303.9:c.1891C>A	ENSP00000344152.5:p.Leu631Ile
ENST00000356839.9:c.1957C>A	ENSP00000349297.5:p.Leu653Ile
ENST00000542255.6:c.836C>A
ENST00000543245.6:c.2026C>A	ENSP00000438689.2:p.Leu676Ile
ENST00000578033.1:n.382C>A
ENST00000578319.5:n.538C>A
ENST00000578711.1:n.1582C>A
ENST00000578809.5:n.529C>A
ENST00000579425.5:n.1073C>A
ENST00000583848.5:c.323C>A	ENSP00000466487.1:n.323C>A
ENST00000583850.5:n.728C>A
ENST00000583858.5:c.888C>A
NM_000018.3:c.1957C>A	NP_000009.1:p.Leu653Ile
NM_001033859.2:c.1891C>A	NP_001029031.1:p.Leu631Ile
NM_001270447.1:c.2026C>A	NP_001257376.1:p.Leu676Ile
NM_001270448.1:c.1729C>A	NP_001257377.1:p.Leu577Ile
XM_006721516.2:c.1978C>A	XP_006721579.2:p.Leu660Ile
XM_011523829.1:c.1876C>A	XP_011522131.1:p.Leu626Ile
XM_011523830.1:c.1855C>A	XP_011522132.1:p.Leu619Ile
XR_934021.1:n.2060C>A
XR_934022.1:n.1966C>A
XR_934023.1:n.1987C>A
XM_006721516.3:c.1978C>A	XP_006721579.2:p.Leu660Ile
XM_011523829.2:c.1876C>A	XP_011522131.1:p.Leu626Ile
XM_011523830.2:c.1855C>A	XP_011522132.1:p.Leu619Ile
XM_024450741.1:c.1945C>A	XP_024306509.1:p.Leu649Ile
XR_934021.2:n.2012C>A
XR_934022.2:n.1918C>A
XR_934023.2:n.1939C>A
NM_000018.4:c.1957C>A MANE Select	NP_000009.1:p.Leu653Ile
NM_001033859.3:c.1891C>A	NP_001029031.1:p.Leu631Ile
NM_001270447.2:c.2026C>A	NP_001257376.1:p.Leu676Ile
NM_001270448.2:c.1729C>A	NP_001257377.1:p.Leu577Ile