Canonical Allele Identifier: CA497694152

Gene: ACADVL

Linked Data

• dbSNP Id: rs2071344593
• MyVariant Identifiers: chr17:g.7127134G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223815G>A , CM000679.2:g.7223815G>A	GRCh38
NC_000017.10:g.7127134G>A , CM000679.1:g.7127134G>A	GRCh37
NC_000017.9:g.7067858G>A	NCBI36
NG_007975.1:g.8982G>A
NG_008391.2:g.1236C>T
NG_033038.1:g.15730C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1272G>A MANE Select	ENSP00000349297.5:p.Glu424=
ENST00000322910.9:c.*1227G>A	ENSP00000325395.5:n.*1227G>A
ENST00000350303.9:c.1206G>A	ENSP00000344152.5:p.Glu402=
ENST00000356839.9:c.1272G>A	ENSP00000349297.5:p.Glu424=
ENST00000542255.6:c.130G>A
ENST00000543245.6:c.1341G>A	ENSP00000438689.2:p.Glu447=
ENST00000578579.2:n.443G>A
ENST00000578711.1:n.311G>A
ENST00000578824.5:n.688G>A
ENST00000579425.5:n.296G>A
ENST00000579546.1:c.109G>A
ENST00000583850.5:n.47G>A
ENST00000583858.5:c.301G>A
ENST00000585203.6:n.480G>A
NM_000018.3:c.1272G>A	NP_000009.1:p.Glu424=
NM_001033859.2:c.1206G>A	NP_001029031.1:p.Glu402=
NM_001270447.1:c.1341G>A	NP_001257376.1:p.Glu447=
NM_001270448.1:c.1044G>A	NP_001257377.1:p.Glu348=
XM_006721516.2:c.1272G>A	XP_006721579.2:p.Glu424=
XM_011523829.1:c.1272G>A	XP_011522131.1:p.Glu424=
XM_011523830.1:c.1272G>A	XP_011522132.1:p.Glu424=
XR_934021.1:n.1379G>A
XR_934022.1:n.1379G>A
XR_934023.1:n.1379G>A
XM_006721516.3:c.1272G>A	XP_006721579.2:p.Glu424=
XM_011523829.2:c.1272G>A	XP_011522131.1:p.Glu424=
XM_011523830.2:c.1272G>A	XP_011522132.1:p.Glu424=
XM_024450741.1:c.1272G>A	XP_024306509.1:p.Glu424=
XR_934021.2:n.1331G>A
XR_934022.2:n.1331G>A
XR_934023.2:n.1331G>A
NM_000018.4:c.1272G>A MANE Select	NP_000009.1:p.Glu424=
NM_001033859.3:c.1206G>A	NP_001029031.1:p.Glu402=
NM_001270447.2:c.1341G>A	NP_001257376.1:p.Glu447=
NM_001270448.2:c.1044G>A	NP_001257377.1:p.Glu348=