Canonical Allele Identifier: CA397726083

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 541724
• ClinVar RCV Id: RCV000652044 ; RCV002293468
• dbSNP Id: rs1555529186
• gnomAD v4: 17-7225007-G-A
• MyVariant Identifiers: chr17:g.7128326G>A (hg19) ; chr17:g.7225007G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225007G>A , CM000679.2:g.7225007G>A	GRCh38
NC_000017.10:g.7128326G>A , CM000679.1:g.7128326G>A	GRCh37
NC_000017.9:g.7069050G>A	NCBI36
NG_007975.1:g.10174G>A
NG_008391.2:g.44C>T
NG_033038.1:g.14538C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1878G>A MANE Select	ENSP00000349297.5:p.Trp626Ter
ENST00000322910.9:c.*1833G>A	ENSP00000325395.5:n.*1833G>A
ENST00000350303.9:c.1812G>A	ENSP00000344152.5:p.Trp604Ter
ENST00000356839.9:c.1878G>A	ENSP00000349297.5:p.Trp626Ter
ENST00000542255.6:c.757G>A
ENST00000543245.6:c.1947G>A	ENSP00000438689.2:p.Trp649Ter
ENST00000578033.1:n.303G>A
ENST00000578319.5:n.459G>A
ENST00000578711.1:n.1503G>A
ENST00000578809.5:n.450G>A
ENST00000579425.5:n.994G>A
ENST00000583848.5:c.244G>A	ENSP00000466487.1:n.244G>A
ENST00000583850.5:n.649G>A
ENST00000583858.5:c.809G>A
NM_000018.3:c.1878G>A	NP_000009.1:p.Trp626Ter
NM_001033859.2:c.1812G>A	NP_001029031.1:p.Trp604Ter
NM_001270447.1:c.1947G>A	NP_001257376.1:p.Trp649Ter
NM_001270448.1:c.1650G>A	NP_001257377.1:p.Trp550Ter
XM_006721516.2:c.1899G>A	XP_006721579.2:p.Trp633Ter
XM_011523829.1:c.1797G>A	XP_011522131.1:p.Trp599Ter
XM_011523830.1:c.1776G>A	XP_011522132.1:p.Trp592Ter
XR_934021.1:n.1981G>A
XR_934022.1:n.1887G>A
XR_934023.1:n.1908G>A
XM_006721516.3:c.1899G>A	XP_006721579.2:p.Trp633Ter
XM_011523829.2:c.1797G>A	XP_011522131.1:p.Trp599Ter
XM_011523830.2:c.1776G>A	XP_011522132.1:p.Trp592Ter
XM_024450741.1:c.1866G>A	XP_024306509.1:p.Trp622Ter
XR_934021.2:n.1933G>A
XR_934022.2:n.1839G>A
XR_934023.2:n.1860G>A
NM_000018.4:c.1878G>A MANE Select	NP_000009.1:p.Trp626Ter
NM_001033859.3:c.1812G>A	NP_001029031.1:p.Trp604Ter
NM_001270447.2:c.1947G>A	NP_001257376.1:p.Trp649Ter
NM_001270448.2:c.1650G>A	NP_001257377.1:p.Trp550Ter