Canonical Allele Identifier: CA397726256

Gene: ACADVL

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1957C>T MANE Select	ENSP00000349297.5:p.Leu653Phe
ENST00000322910.9:c.*1912C>T	ENSP00000325395.5:n.*1912C>T
ENST00000350303.9:c.1891C>T	ENSP00000344152.5:p.Leu631Phe
ENST00000356839.9:c.1957C>T	ENSP00000349297.5:p.Leu653Phe
ENST00000542255.6:c.836C>T
ENST00000543245.6:c.2026C>T	ENSP00000438689.2:p.Leu676Phe
ENST00000578033.1:n.382C>T
ENST00000578319.5:n.538C>T
ENST00000578711.1:n.1582C>T
ENST00000578809.5:n.529C>T
ENST00000579425.5:n.1073C>T
ENST00000583848.5:c.323C>T	ENSP00000466487.1:n.323C>T
ENST00000583850.5:n.728C>T
ENST00000583858.5:c.888C>T
NM_000018.3:c.1957C>T	NP_000009.1:p.Leu653Phe
NM_001033859.2:c.1891C>T	NP_001029031.1:p.Leu631Phe
NM_001270447.1:c.2026C>T	NP_001257376.1:p.Leu676Phe
NM_001270448.1:c.1729C>T	NP_001257377.1:p.Leu577Phe
XM_006721516.2:c.1978C>T	XP_006721579.2:p.Leu660Phe
XM_011523829.1:c.1876C>T	XP_011522131.1:p.Leu626Phe
XM_011523830.1:c.1855C>T	XP_011522132.1:p.Leu619Phe
XR_934021.1:n.2060C>T
XR_934022.1:n.1966C>T
XR_934023.1:n.1987C>T
XM_006721516.3:c.1978C>T	XP_006721579.2:p.Leu660Phe
XM_011523829.2:c.1876C>T	XP_011522131.1:p.Leu626Phe
XM_011523830.2:c.1855C>T	XP_011522132.1:p.Leu619Phe
XM_024450741.1:c.1945C>T	XP_024306509.1:p.Leu649Phe
XR_934021.2:n.2012C>T
XR_934022.2:n.1918C>T
XR_934023.2:n.1939C>T
NM_000018.4:c.1957C>T MANE Select	NP_000009.1:p.Leu653Phe
NM_001033859.3:c.1891C>T	NP_001029031.1:p.Leu631Phe
NM_001270447.2:c.2026C>T	NP_001257376.1:p.Leu676Phe
NM_001270448.2:c.1729C>T	NP_001257377.1:p.Leu577Phe