Canonical Allele Identifier: CA397722898

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 932856
• ClinVar RCV Id: RCV001200816
• dbSNP Id: rs398123089
• gnomAD v4: 17-7221017-G-A
• MyVariant Identifiers: chr17:g.7124336G>A (hg19) ; chr17:g.7221017G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7221017G>A , CM000679.2:g.7221017G>A	GRCh38
NC_000017.10:g.7124336G>A , CM000679.1:g.7124336G>A	GRCh37
NC_000017.9:g.7065060G>A	NCBI36
NG_007975.1:g.6184G>A
NG_008391.2:g.4034C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000356839.10:c.436G>A MANE Select	ENSP00000349297.5:p.Val146Met
ENST00000322910.9:c.*391G>A	ENSP00000325395.5:n.*391G>A
ENST00000350303.9:c.370G>A	ENSP00000344152.5:p.Val124Met
ENST00000356839.9:c.436G>A	ENSP00000349297.5:p.Val146Met
ENST00000543245.6:c.505G>A	ENSP00000438689.2:p.Val169Met
ENST00000577191.5:n.513G>A
ENST00000577433.5:n.644G>A
ENST00000577857.5:n.293+187G>A
ENST00000579286.5:n.617G>A
ENST00000579886.2:c.274G>A	ENSP00000463246.1:p.Val92Met
ENST00000580365.1:n.167G>A
ENST00000581378.5:c.135G>A
ENST00000581562.5:n.483G>A
ENST00000582056.5:n.619G>A
ENST00000582166.1:n.417G>A
ENST00000583312.5:c.436G>A	ENSP00000467920.1:p.Val146Met
ENST00000584103.5:c.469G>A	ENSP00000465353.1:p.Val157Met
NM_000018.3:c.436G>A	NP_000009.1:p.Val146Met
NM_001033859.2:c.370G>A	NP_001029031.1:p.Val124Met
NM_001270447.1:c.505G>A	NP_001257376.1:p.Val169Met
NM_001270448.1:c.208G>A	NP_001257377.1:p.Val70Met
XM_006721516.2:c.436G>A	XP_006721579.2:p.Val146Met
XM_011523829.1:c.436G>A	XP_011522131.1:p.Val146Met
XM_011523830.1:c.436G>A	XP_011522132.1:p.Val146Met
XR_934021.1:n.543G>A
XR_934022.1:n.543G>A
XR_934023.1:n.543G>A
XM_006721516.3:c.436G>A	XP_006721579.2:p.Val146Met
XM_011523829.2:c.436G>A	XP_011522131.1:p.Val146Met
XM_011523830.2:c.436G>A	XP_011522132.1:p.Val146Met
XM_024450741.1:c.436G>A	XP_024306509.1:p.Val146Met
XR_934021.2:n.495G>A
XR_934022.2:n.495G>A
XR_934023.2:n.495G>A
NM_000018.4:c.436G>A MANE Select	NP_000009.1:p.Val146Met
NM_001033859.3:c.370G>A	NP_001029031.1:p.Val124Met
NM_001270447.2:c.505G>A	NP_001257376.1:p.Val169Met
NM_001270448.2:c.208G>A	NP_001257377.1:p.Val70Met