Canonical Allele Identifier: CA397724457

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 1925132
• ClinVar RCV Id: RCV002618018
• dbSNP Id: rs756194870
• gnomAD v2: 17-7126521-C-A
• gnomAD v4: 17-7223202-C-A
• MyVariant Identifiers: chr17:g.7126521C>A (hg19) ; chr17:g.7223202C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7223202C>A , CM000679.2:g.7223202C>A	GRCh38
NC_000017.10:g.7126521C>A , CM000679.1:g.7126521C>A	GRCh37
NC_000017.9:g.7067245C>A	NCBI36
NG_007975.1:g.8369C>A
NG_008391.2:g.1849G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.1147C>A MANE Select	ENSP00000349297.5:p.Leu383Met
ENST00000322910.9:c.*1102C>A	ENSP00000325395.5:n.*1102C>A
ENST00000350303.9:c.1081C>A	ENSP00000344152.5:p.Leu361Met
ENST00000356839.9:c.1147C>A	ENSP00000349297.5:p.Leu383Met
ENST00000542255.6:c.5C>A
ENST00000543245.6:c.1216C>A	ENSP00000438689.2:p.Leu406Met
ENST00000578579.2:n.96C>A
ENST00000578824.5:n.563C>A
ENST00000579425.5:n.171C>A
ENST00000582379.1:n.798C>A
ENST00000583858.5:c.176C>A
ENST00000585203.6:n.355C>A
NM_000018.3:c.1147C>A	NP_000009.1:p.Leu383Met
NM_001033859.2:c.1081C>A	NP_001029031.1:p.Leu361Met
NM_001270447.1:c.1216C>A	NP_001257376.1:p.Leu406Met
NM_001270448.1:c.919C>A	NP_001257377.1:p.Leu307Met
XM_006721516.2:c.1147C>A	XP_006721579.2:p.Leu383Met
XM_011523829.1:c.1147C>A	XP_011522131.1:p.Leu383Met
XM_011523830.1:c.1147C>A	XP_011522132.1:p.Leu383Met
XR_934021.1:n.1254C>A
XR_934022.1:n.1254C>A
XR_934023.1:n.1254C>A
XM_006721516.3:c.1147C>A	XP_006721579.2:p.Leu383Met
XM_011523829.2:c.1147C>A	XP_011522131.1:p.Leu383Met
XM_011523830.2:c.1147C>A	XP_011522132.1:p.Leu383Met
XM_024450741.1:c.1147C>A	XP_024306509.1:p.Leu383Met
XR_934021.2:n.1206C>A
XR_934022.2:n.1206C>A
XR_934023.2:n.1206C>A
NM_000018.4:c.1147C>A MANE Select	NP_000009.1:p.Leu383Met
NM_001033859.3:c.1081C>A	NP_001029031.1:p.Leu361Met
NM_001270447.2:c.1216C>A	NP_001257376.1:p.Leu406Met
NM_001270448.2:c.919C>A	NP_001257377.1:p.Leu307Met