Canonical Allele Identifier: CA397722769

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7124276G>A (hg19) ; chr17:g.7220957G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220957G>A , CM000679.2:g.7220957G>A	GRCh38
NC_000017.10:g.7124276G>A , CM000679.1:g.7124276G>A	GRCh37
NC_000017.9:g.7065000G>A	NCBI36
NG_007975.1:g.6124G>A
NG_008391.2:g.4094C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.376G>A MANE Select	ENSP00000349297.5:p.Glu126Lys
ENST00000322910.9:c.*331G>A	ENSP00000325395.5:n.*331G>A
ENST00000350303.9:c.310G>A	ENSP00000344152.5:p.Glu104Lys
ENST00000356839.9:c.376G>A	ENSP00000349297.5:p.Glu126Lys
ENST00000543245.6:c.445G>A	ENSP00000438689.2:p.Glu149Lys
ENST00000577191.5:n.453G>A
ENST00000577433.5:n.584G>A
ENST00000577857.5:n.293+127G>A
ENST00000579286.5:n.557G>A
ENST00000579886.2:c.214G>A	ENSP00000463246.1:p.Glu72Lys
ENST00000580365.1:n.107G>A
ENST00000581378.5:c.75G>A
ENST00000581562.5:n.423G>A
ENST00000582056.5:n.559G>A
ENST00000582166.1:n.357G>A
ENST00000583312.5:c.376G>A	ENSP00000467920.1:p.Glu126Lys
ENST00000584103.5:c.409G>A	ENSP00000465353.1:p.Glu137Lys
NM_000018.3:c.376G>A	NP_000009.1:p.Glu126Lys
NM_001033859.2:c.310G>A	NP_001029031.1:p.Glu104Lys
NM_001270447.1:c.445G>A	NP_001257376.1:p.Glu149Lys
NM_001270448.1:c.148G>A	NP_001257377.1:p.Glu50Lys
XM_006721516.2:c.376G>A	XP_006721579.2:p.Glu126Lys
XM_011523829.1:c.376G>A	XP_011522131.1:p.Glu126Lys
XM_011523830.1:c.376G>A	XP_011522132.1:p.Glu126Lys
XR_934021.1:n.483G>A
XR_934022.1:n.483G>A
XR_934023.1:n.483G>A
XM_006721516.3:c.376G>A	XP_006721579.2:p.Glu126Lys
XM_011523829.2:c.376G>A	XP_011522131.1:p.Glu126Lys
XM_011523830.2:c.376G>A	XP_011522132.1:p.Glu126Lys
XM_024450741.1:c.376G>A	XP_024306509.1:p.Glu126Lys
XR_934021.2:n.435G>A
XR_934022.2:n.435G>A
XR_934023.2:n.435G>A
NM_000018.4:c.376G>A MANE Select	NP_000009.1:p.Glu126Lys
NM_001033859.3:c.310G>A	NP_001029031.1:p.Glu104Lys
NM_001270447.2:c.445G>A	NP_001257376.1:p.Glu149Lys
NM_001270448.2:c.148G>A	NP_001257377.1:p.Glu50Lys