Canonical Allele Identifier: CA397722882

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7124326T>G (hg19) ; chr17:g.7221007T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221007T>G , CM000679.2:g.7221007T>G	GRCh38
NC_000017.10:g.7124326T>G , CM000679.1:g.7124326T>G	GRCh37
NC_000017.9:g.7065050T>G	NCBI36
NG_007975.1:g.6174T>G
NG_008391.2:g.4044A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.426T>G MANE Select	ENSP00000349297.5:p.Phe142Leu
ENST00000322910.9:c.*381T>G	ENSP00000325395.5:n.*381T>G
ENST00000350303.9:c.360T>G	ENSP00000344152.5:p.Phe120Leu
ENST00000356839.9:c.426T>G	ENSP00000349297.5:p.Phe142Leu
ENST00000543245.6:c.495T>G	ENSP00000438689.2:p.Phe165Leu
ENST00000577191.5:n.503T>G
ENST00000577433.5:n.634T>G
ENST00000577857.5:n.293+177T>G
ENST00000579286.5:n.607T>G
ENST00000579886.2:c.264T>G	ENSP00000463246.1:p.Phe88Leu
ENST00000580365.1:n.157T>G
ENST00000581378.5:c.125T>G
ENST00000581562.5:n.473T>G
ENST00000582056.5:n.609T>G
ENST00000582166.1:n.407T>G
ENST00000583312.5:c.426T>G	ENSP00000467920.1:p.Phe142Leu
ENST00000584103.5:c.459T>G	ENSP00000465353.1:p.Phe153Leu
NM_000018.3:c.426T>G	NP_000009.1:p.Phe142Leu
NM_001033859.2:c.360T>G	NP_001029031.1:p.Phe120Leu
NM_001270447.1:c.495T>G	NP_001257376.1:p.Phe165Leu
NM_001270448.1:c.198T>G	NP_001257377.1:p.Phe66Leu
XM_006721516.2:c.426T>G	XP_006721579.2:p.Phe142Leu
XM_011523829.1:c.426T>G	XP_011522131.1:p.Phe142Leu
XM_011523830.1:c.426T>G	XP_011522132.1:p.Phe142Leu
XR_934021.1:n.533T>G
XR_934022.1:n.533T>G
XR_934023.1:n.533T>G
XM_006721516.3:c.426T>G	XP_006721579.2:p.Phe142Leu
XM_011523829.2:c.426T>G	XP_011522131.1:p.Phe142Leu
XM_011523830.2:c.426T>G	XP_011522132.1:p.Phe142Leu
XM_024450741.1:c.426T>G	XP_024306509.1:p.Phe142Leu
XR_934021.2:n.485T>G
XR_934022.2:n.485T>G
XR_934023.2:n.485T>G
NM_000018.4:c.426T>G MANE Select	NP_000009.1:p.Phe142Leu
NM_001033859.3:c.360T>G	NP_001029031.1:p.Phe120Leu
NM_001270447.2:c.495T>G	NP_001257376.1:p.Phe165Leu
NM_001270448.2:c.198T>G	NP_001257377.1:p.Phe66Leu