Canonical Allele Identifier: CA397723909

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7125997A>C (hg19) ; chr17:g.7222678A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7222678A>C , CM000679.2:g.7222678A>C	GRCh38
NC_000017.10:g.7125997A>C , CM000679.1:g.7125997A>C	GRCh37
NC_000017.9:g.7066721A>C	NCBI36
NG_007975.1:g.7845A>C
NG_008391.2:g.2373T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.890A>C MANE Select	ENSP00000349297.5:p.Glu297Ala
ENST00000322910.9:c.*845A>C	ENSP00000325395.5:n.*845A>C
ENST00000350303.9:c.824A>C	ENSP00000344152.5:p.Glu275Ala
ENST00000356839.9:c.890A>C	ENSP00000349297.5:p.Glu297Ala
ENST00000543245.6:c.959A>C	ENSP00000438689.2:p.Glu320Ala
ENST00000578824.5:n.39A>C
ENST00000581378.5:c.608A>C
ENST00000582379.1:n.274A>C
NM_000018.3:c.890A>C	NP_000009.1:p.Glu297Ala
NM_001033859.2:c.824A>C	NP_001029031.1:p.Glu275Ala
NM_001270447.1:c.959A>C	NP_001257376.1:p.Glu320Ala
NM_001270448.1:c.662A>C	NP_001257377.1:p.Glu221Ala
XM_006721516.2:c.890A>C	XP_006721579.2:p.Glu297Ala
XM_011523829.1:c.890A>C	XP_011522131.1:p.Glu297Ala
XM_011523830.1:c.890A>C	XP_011522132.1:p.Glu297Ala
XR_934021.1:n.997A>C
XR_934022.1:n.997A>C
XR_934023.1:n.997A>C
XM_006721516.3:c.890A>C	XP_006721579.2:p.Glu297Ala
XM_011523829.2:c.890A>C	XP_011522131.1:p.Glu297Ala
XM_011523830.2:c.890A>C	XP_011522132.1:p.Glu297Ala
XM_024450741.1:c.890A>C	XP_024306509.1:p.Glu297Ala
XR_934021.2:n.949A>C
XR_934022.2:n.949A>C
XR_934023.2:n.949A>C
NM_000018.4:c.890A>C MANE Select	NP_000009.1:p.Glu297Ala
NM_001033859.3:c.824A>C	NP_001029031.1:p.Glu275Ala
NM_001270447.2:c.959A>C	NP_001257376.1:p.Glu320Ala
NM_001270448.2:c.662A>C	NP_001257377.1:p.Glu221Ala