Canonical Allele Identifier: CA397726189

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 2418760
• ClinVar RCV Id: RCV003121509
• dbSNP Id: rs2071414050
• gnomAD v4: 17-7225053-G-A
• MyVariant Identifiers: chr17:g.7128372G>A (hg19) ; chr17:g.7225053G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7225053G>A , CM000679.2:g.7225053G>A	GRCh38
NC_000017.10:g.7128372G>A , CM000679.1:g.7128372G>A	GRCh37
NC_000017.9:g.7069096G>A	NCBI36
NG_007975.1:g.10220G>A
NG_033038.1:g.14492C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1924G>A MANE Select	ENSP00000349297.5:p.Val642Met
ENST00000322910.9:c.*1879G>A	ENSP00000325395.5:n.*1879G>A
ENST00000350303.9:c.1858G>A	ENSP00000344152.5:p.Val620Met
ENST00000356839.9:c.1924G>A	ENSP00000349297.5:p.Val642Met
ENST00000542255.6:c.803G>A
ENST00000543245.6:c.1993G>A	ENSP00000438689.2:p.Val665Met
ENST00000578033.1:n.349G>A
ENST00000578319.5:n.505G>A
ENST00000578711.1:n.1549G>A
ENST00000578809.5:n.496G>A
ENST00000579425.5:n.1040G>A
ENST00000583848.5:c.290G>A	ENSP00000466487.1:n.290G>A
ENST00000583850.5:n.695G>A
ENST00000583858.5:c.855G>A
NM_000018.3:c.1924G>A	NP_000009.1:p.Val642Met
NM_001033859.2:c.1858G>A	NP_001029031.1:p.Val620Met
NM_001270447.1:c.1993G>A	NP_001257376.1:p.Val665Met
NM_001270448.1:c.1696G>A	NP_001257377.1:p.Val566Met
XM_006721516.2:c.1945G>A	XP_006721579.2:p.Val649Met
XM_011523829.1:c.1843G>A	XP_011522131.1:p.Val615Met
XM_011523830.1:c.1822G>A	XP_011522132.1:p.Val608Met
XR_934021.1:n.2027G>A
XR_934022.1:n.1933G>A
XR_934023.1:n.1954G>A
XM_006721516.3:c.1945G>A	XP_006721579.2:p.Val649Met
XM_011523829.2:c.1843G>A	XP_011522131.1:p.Val615Met
XM_011523830.2:c.1822G>A	XP_011522132.1:p.Val608Met
XM_024450741.1:c.1912G>A	XP_024306509.1:p.Val638Met
XR_934021.2:n.1979G>A
XR_934022.2:n.1885G>A
XR_934023.2:n.1906G>A
NM_000018.4:c.1924G>A MANE Select	NP_000009.1:p.Val642Met
NM_001033859.3:c.1858G>A	NP_001029031.1:p.Val620Met
NM_001270447.2:c.1993G>A	NP_001257376.1:p.Val665Met
NM_001270448.2:c.1696G>A	NP_001257377.1:p.Val566Met