Canonical Allele Identifier: CA497693854

Gene: ACADVL

Linked Data

• gnomAD v4: 17-7220606-A-G
• MyVariant Identifiers: chr17:g.7123925A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220606A>G , CM000679.2:g.7220606A>G	GRCh38
NC_000017.10:g.7123925A>G , CM000679.1:g.7123925A>G	GRCh37
NC_000017.9:g.7064649A>G	NCBI36
NG_007975.1:g.5773A>G
NG_008391.2:g.4445T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.207A>G MANE Select	ENSP00000349297.5:p.Glu69=
ENST00000322910.9:c.*162A>G	ENSP00000325395.5:n.*162A>G
ENST00000350303.9:c.141A>G	ENSP00000344152.5:p.Glu47=
ENST00000356839.9:c.207A>G	ENSP00000349297.5:p.Glu69=
ENST00000543245.6:c.276A>G	ENSP00000438689.2:p.Glu92=
ENST00000577191.5:n.284A>G
ENST00000577433.5:n.415A>G
ENST00000577857.5:n.229-160A>G
ENST00000578269.5:n.654A>G
ENST00000578421.1:n.415A>G
ENST00000579286.5:n.388A>G
ENST00000579886.2:c.201+80A>G	ENSP00000463246.1:n.201+80A>G
ENST00000580263.5:n.371A>G
ENST00000581562.5:n.254A>G
ENST00000582056.5:n.297A>G
ENST00000582166.1:n.95A>G
ENST00000582356.5:n.406A>G
ENST00000583312.5:c.207A>G	ENSP00000467920.1:p.Glu69=
ENST00000584103.5:c.207A>G	ENSP00000465353.1:p.Glu69=
NM_000018.3:c.207A>G	NP_000009.1:p.Glu69=
NM_001033859.2:c.141A>G	NP_001029031.1:p.Glu47=
NM_001270447.1:c.276A>G	NP_001257376.1:p.Glu92=
NM_001270448.1:c.-22A>G	NP_001257377.1:n.-22A>G
XM_006721516.2:c.207A>G	XP_006721579.2:p.Glu69=
XM_011523829.1:c.207A>G	XP_011522131.1:p.Glu69=
XM_011523830.1:c.207A>G	XP_011522132.1:p.Glu69=
XR_934021.1:n.314A>G
XR_934022.1:n.314A>G
XR_934023.1:n.314A>G
XM_006721516.3:c.207A>G	XP_006721579.2:p.Glu69=
XM_011523829.2:c.207A>G	XP_011522131.1:p.Glu69=
XM_011523830.2:c.207A>G	XP_011522132.1:p.Glu69=
XM_024450741.1:c.207A>G	XP_024306509.1:p.Glu69=
XR_934021.2:n.266A>G
XR_934022.2:n.266A>G
XR_934023.2:n.266A>G
NM_000018.4:c.207A>G MANE Select	NP_000009.1:p.Glu69=
NM_001033859.3:c.141A>G	NP_001029031.1:p.Glu47=
NM_001270447.2:c.276A>G	NP_001257376.1:p.Glu92=
NM_001270448.2:c.-22A>G	NP_001257377.1:n.-22A>G