Canonical Allele Identifier: CA397724999

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 994035
• ClinVar RCV Id: RCV001286682
• dbSNP Id: rs2071355499
• MyVariant Identifiers: chr17:g.7127338G>A (hg19) ; chr17:g.7224019G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7224019G>A , CM000679.2:g.7224019G>A	GRCh38
NC_000017.10:g.7127338G>A , CM000679.1:g.7127338G>A	GRCh37
NC_000017.9:g.7068062G>A	NCBI36
NG_007975.1:g.9186G>A
NG_008391.2:g.1032C>T
NG_033038.1:g.15526C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.1384G>A MANE Select	ENSP00000349297.5:p.Glu462Lys
ENST00000322910.9:c.*1339G>A	ENSP00000325395.5:n.*1339G>A
ENST00000350303.9:c.1318G>A	ENSP00000344152.5:p.Glu440Lys
ENST00000356839.9:c.1384G>A	ENSP00000349297.5:p.Glu462Lys
ENST00000542255.6:c.242G>A
ENST00000543245.6:c.1453G>A	ENSP00000438689.2:p.Glu485Lys
ENST00000578711.1:n.515G>A
ENST00000579425.5:n.500G>A
ENST00000579546.1:c.221G>A
ENST00000579894.5:n.95G>A
ENST00000583074.5:n.103G>A
ENST00000583850.5:n.159G>A
ENST00000583858.5:c.413G>A
ENST00000585203.6:n.575G>A
NM_000018.3:c.1384G>A	NP_000009.1:p.Glu462Lys
NM_001033859.2:c.1318G>A	NP_001029031.1:p.Glu440Lys
NM_001270447.1:c.1453G>A	NP_001257376.1:p.Glu485Lys
NM_001270448.1:c.1156G>A	NP_001257377.1:p.Glu386Lys
XM_006721516.2:c.1384G>A	XP_006721579.2:p.Glu462Lys
XM_011523829.1:c.1384G>A	XP_011522131.1:p.Glu462Lys
XM_011523830.1:c.1384G>A	XP_011522132.1:p.Glu462Lys
XR_934021.1:n.1491G>A
XR_934022.1:n.1491G>A
XR_934023.1:n.1491G>A
XM_006721516.3:c.1384G>A	XP_006721579.2:p.Glu462Lys
XM_011523829.2:c.1384G>A	XP_011522131.1:p.Glu462Lys
XM_011523830.2:c.1384G>A	XP_011522132.1:p.Glu462Lys
XM_024450741.1:c.1384G>A	XP_024306509.1:p.Glu462Lys
XR_934021.2:n.1443G>A
XR_934022.2:n.1443G>A
XR_934023.2:n.1443G>A
NM_000018.4:c.1384G>A MANE Select	NP_000009.1:p.Glu462Lys
NM_001033859.3:c.1318G>A	NP_001029031.1:p.Glu440Lys
NM_001270447.2:c.1453G>A	NP_001257376.1:p.Glu485Lys
NM_001270448.2:c.1156G>A	NP_001257377.1:p.Glu386Lys