Canonical Allele Identifier: CA397724529

Gene: ACADVL

Linked Data

• MyVariant Identifiers: chr17:g.7126556G>T (hg19) ; chr17:g.7223237G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223237G>T , CM000679.2:g.7223237G>T	GRCh38
NC_000017.10:g.7126556G>T , CM000679.1:g.7126556G>T	GRCh37
NC_000017.9:g.7067280G>T	NCBI36
NG_007975.1:g.8404G>T
NG_008391.2:g.1814C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1182G>T MANE Select	ENSP00000349297.5:p.Glu394Asp
ENST00000322910.9:c.*1137G>T	ENSP00000325395.5:n.*1137G>T
ENST00000350303.9:c.1116G>T	ENSP00000344152.5:p.Glu372Asp
ENST00000356839.9:c.1182G>T	ENSP00000349297.5:p.Glu394Asp
ENST00000542255.6:c.40G>T
ENST00000543245.6:c.1251G>T	ENSP00000438689.2:p.Glu417Asp
ENST00000578579.2:n.131G>T
ENST00000578824.5:n.598G>T
ENST00000579425.5:n.206G>T
ENST00000579546.1:c.19G>T
ENST00000582379.1:n.833G>T
ENST00000583858.5:c.211G>T
ENST00000585203.6:n.390G>T
NM_000018.3:c.1182G>T	NP_000009.1:p.Glu394Asp
NM_001033859.2:c.1116G>T	NP_001029031.1:p.Glu372Asp
NM_001270447.1:c.1251G>T	NP_001257376.1:p.Glu417Asp
NM_001270448.1:c.954G>T	NP_001257377.1:p.Glu318Asp
XM_006721516.2:c.1182G>T	XP_006721579.2:p.Glu394Asp
XM_011523829.1:c.1182G>T	XP_011522131.1:p.Glu394Asp
XM_011523830.1:c.1182G>T	XP_011522132.1:p.Glu394Asp
XR_934021.1:n.1289G>T
XR_934022.1:n.1289G>T
XR_934023.1:n.1289G>T
XM_006721516.3:c.1182G>T	XP_006721579.2:p.Glu394Asp
XM_011523829.2:c.1182G>T	XP_011522131.1:p.Glu394Asp
XM_011523830.2:c.1182G>T	XP_011522132.1:p.Glu394Asp
XM_024450741.1:c.1182G>T	XP_024306509.1:p.Glu394Asp
XR_934021.2:n.1241G>T
XR_934022.2:n.1241G>T
XR_934023.2:n.1241G>T
NM_000018.4:c.1182G>T MANE Select	NP_000009.1:p.Glu394Asp
NM_001033859.3:c.1116G>T	NP_001029031.1:p.Glu372Asp
NM_001270447.2:c.1251G>T	NP_001257376.1:p.Glu417Asp
NM_001270448.2:c.954G>T	NP_001257377.1:p.Glu318Asp