Canonical Allele Identifier: CA397722776

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 932853
• ClinVar RCV Id: RCV001200812
• dbSNP Id: rs2071183181
• MyVariant Identifiers: chr17:g.7124278G>T (hg19) ; chr17:g.7220959G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220959G>T , CM000679.2:g.7220959G>T	GRCh38
NC_000017.10:g.7124278G>T , CM000679.1:g.7124278G>T	GRCh37
NC_000017.9:g.7065002G>T	NCBI36
NG_007975.1:g.6126G>T
NG_008391.2:g.4092C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.378G>T MANE Select	ENSP00000349297.5:p.Glu126Asp
ENST00000322910.9:c.*333G>T	ENSP00000325395.5:n.*333G>T
ENST00000350303.9:c.312G>T	ENSP00000344152.5:p.Glu104Asp
ENST00000356839.9:c.378G>T	ENSP00000349297.5:p.Glu126Asp
ENST00000543245.6:c.447G>T	ENSP00000438689.2:p.Glu149Asp
ENST00000577191.5:n.455G>T
ENST00000577433.5:n.586G>T
ENST00000577857.5:n.293+129G>T
ENST00000579286.5:n.559G>T
ENST00000579886.2:c.216G>T	ENSP00000463246.1:p.Glu72Asp
ENST00000580365.1:n.109G>T
ENST00000581378.5:c.77G>T
ENST00000581562.5:n.425G>T
ENST00000582056.5:n.561G>T
ENST00000582166.1:n.359G>T
ENST00000583312.5:c.378G>T	ENSP00000467920.1:p.Glu126Asp
ENST00000584103.5:c.411G>T	ENSP00000465353.1:p.Glu137Asp
NM_000018.3:c.378G>T	NP_000009.1:p.Glu126Asp
NM_001033859.2:c.312G>T	NP_001029031.1:p.Glu104Asp
NM_001270447.1:c.447G>T	NP_001257376.1:p.Glu149Asp
NM_001270448.1:c.150G>T	NP_001257377.1:p.Glu50Asp
XM_006721516.2:c.378G>T	XP_006721579.2:p.Glu126Asp
XM_011523829.1:c.378G>T	XP_011522131.1:p.Glu126Asp
XM_011523830.1:c.378G>T	XP_011522132.1:p.Glu126Asp
XR_934021.1:n.485G>T
XR_934022.1:n.485G>T
XR_934023.1:n.485G>T
XM_006721516.3:c.378G>T	XP_006721579.2:p.Glu126Asp
XM_011523829.2:c.378G>T	XP_011522131.1:p.Glu126Asp
XM_011523830.2:c.378G>T	XP_011522132.1:p.Glu126Asp
XM_024450741.1:c.378G>T	XP_024306509.1:p.Glu126Asp
XR_934021.2:n.437G>T
XR_934022.2:n.437G>T
XR_934023.2:n.437G>T
NM_000018.4:c.378G>T MANE Select	NP_000009.1:p.Glu126Asp
NM_001033859.3:c.312G>T	NP_001029031.1:p.Glu104Asp
NM_001270447.2:c.447G>T	NP_001257376.1:p.Glu149Asp
NM_001270448.2:c.150G>T	NP_001257377.1:p.Glu50Asp