Canonical Allele Identifier: CA397723163

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7221619-A-G
• MyVariant Identifiers: chr17:g.7124938A>G (hg19) ; chr17:g.7221619A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221619A>G , CM000679.2:g.7221619A>G	GRCh38
NC_000017.10:g.7124938A>G , CM000679.1:g.7124938A>G	GRCh37
NC_000017.9:g.7065662A>G	NCBI36
NG_007975.1:g.6786A>G
NG_008391.2:g.3432T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.559A>G MANE Select	ENSP00000349297.5:p.Lys187Glu
ENST00000322910.9:c.*514A>G	ENSP00000325395.5:n.*514A>G
ENST00000350303.9:c.493A>G	ENSP00000344152.5:p.Lys165Glu
ENST00000356839.9:c.559A>G	ENSP00000349297.5:p.Lys187Glu
ENST00000543245.6:c.628A>G	ENSP00000438689.2:p.Lys210Glu
ENST00000577191.5:n.636A>G
ENST00000577433.5:n.767A>G
ENST00000577857.5:n.375A>G
ENST00000579286.5:n.740A>G
ENST00000579886.2:c.397A>G	ENSP00000463246.1:p.Lys133Glu
ENST00000580365.1:n.290A>G
ENST00000581378.5:c.277A>G
ENST00000581562.5:n.525-333A>G
ENST00000582166.1:n.540A>G
ENST00000583312.5:c.559A>G	ENSP00000467920.1:p.Lys187Glu
ENST00000583760.1:n.341A>G
NM_000018.3:c.559A>G	NP_000009.1:p.Lys187Glu
NM_001033859.2:c.493A>G	NP_001029031.1:p.Lys165Glu
NM_001270447.1:c.628A>G	NP_001257376.1:p.Lys210Glu
NM_001270448.1:c.331A>G	NP_001257377.1:p.Lys111Glu
XM_006721516.2:c.559A>G	XP_006721579.2:p.Lys187Glu
XM_011523829.1:c.559A>G	XP_011522131.1:p.Lys187Glu
XM_011523830.1:c.559A>G	XP_011522132.1:p.Lys187Glu
XR_934021.1:n.666A>G
XR_934022.1:n.666A>G
XR_934023.1:n.666A>G
XM_006721516.3:c.559A>G	XP_006721579.2:p.Lys187Glu
XM_011523829.2:c.559A>G	XP_011522131.1:p.Lys187Glu
XM_011523830.2:c.559A>G	XP_011522132.1:p.Lys187Glu
XM_024450741.1:c.559A>G	XP_024306509.1:p.Lys187Glu
XR_934021.2:n.618A>G
XR_934022.2:n.618A>G
XR_934023.2:n.618A>G
NM_000018.4:c.559A>G MANE Select	NP_000009.1:p.Lys187Glu
NM_001033859.3:c.493A>G	NP_001029031.1:p.Lys165Glu
NM_001270447.2:c.628A>G	NP_001257376.1:p.Lys210Glu
NM_001270448.2:c.331A>G	NP_001257377.1:p.Lys111Glu