Canonical Allele Identifier: CA397722409

Gene: ACADVL

Linked Data

• ClinVar Variation Id: 2415225
• ClinVar RCV Id: RCV003110644 ; RCV003341531
• dbSNP Id: rs1262964096
• gnomAD v3: 17-7220643-C-A
• gnomAD v4: 17-7220643-C-A
• MyVariant Identifiers: chr17:g.7123962C>A (hg19) ; chr17:g.7220643C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7220643C>A , CM000679.2:g.7220643C>A	GRCh38
NC_000017.10:g.7123962C>A , CM000679.1:g.7123962C>A	GRCh37
NC_000017.9:g.7064686C>A	NCBI36
NG_007975.1:g.5810C>A
NG_008391.2:g.4408G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000356839.10:c.244C>A MANE Select	ENSP00000349297.5:p.Leu82Ile
ENST00000322910.9:c.*199C>A	ENSP00000325395.5:n.*199C>A
ENST00000350303.9:c.178C>A	ENSP00000344152.5:p.Leu60Ile
ENST00000356839.9:c.244C>A	ENSP00000349297.5:p.Leu82Ile
ENST00000543245.6:c.313C>A	ENSP00000438689.2:p.Leu105Ile
ENST00000577191.5:n.321C>A
ENST00000577433.5:n.452C>A
ENST00000577857.5:n.229-123C>A
ENST00000578269.5:n.691C>A
ENST00000578421.1:n.452C>A
ENST00000579286.5:n.425C>A
ENST00000579886.2:c.201+117C>A	ENSP00000463246.1:n.201+117C>A
ENST00000580263.5:n.408C>A
ENST00000581562.5:n.291C>A
ENST00000582056.5:n.334C>A
ENST00000582166.1:n.132C>A
ENST00000582356.5:n.443C>A
ENST00000583312.5:c.244C>A	ENSP00000467920.1:p.Leu82Ile
ENST00000584103.5:c.244C>A	ENSP00000465353.1:p.Leu82Ile
NM_000018.3:c.244C>A	NP_000009.1:p.Leu82Ile
NM_001033859.2:c.178C>A	NP_001029031.1:p.Leu60Ile
NM_001270447.1:c.313C>A	NP_001257376.1:p.Leu105Ile
NM_001270448.1:c.16C>A	NP_001257377.1:p.Leu6Ile
XM_006721516.2:c.244C>A	XP_006721579.2:p.Leu82Ile
XM_011523829.1:c.244C>A	XP_011522131.1:p.Leu82Ile
XM_011523830.1:c.244C>A	XP_011522132.1:p.Leu82Ile
XR_934021.1:n.351C>A
XR_934022.1:n.351C>A
XR_934023.1:n.351C>A
XM_006721516.3:c.244C>A	XP_006721579.2:p.Leu82Ile
XM_011523829.2:c.244C>A	XP_011522131.1:p.Leu82Ile
XM_011523830.2:c.244C>A	XP_011522132.1:p.Leu82Ile
XM_024450741.1:c.244C>A	XP_024306509.1:p.Leu82Ile
XR_934021.2:n.303C>A
XR_934022.2:n.303C>A
XR_934023.2:n.303C>A
NM_000018.4:c.244C>A MANE Select	NP_000009.1:p.Leu82Ile
NM_001033859.3:c.178C>A	NP_001029031.1:p.Leu60Ile
NM_001270447.2:c.313C>A	NP_001257376.1:p.Leu105Ile
NM_001270448.2:c.16C>A	NP_001257377.1:p.Leu6Ile